aldosterone has been researched along with Pseudohypoaldosteronism in 112 studies
Pseudohypoaldosteronism: A heterogeneous group of disorders characterized by renal electrolyte transport dysfunctions. Congenital forms are rare autosomal disorders characterized by neonatal hypertension, HYPERKALEMIA, increased RENIN activity and ALDOSTERONE concentration. The Type I features HYPERKALEMIA with sodium wasting; Type II, HYPERKALEMIA without sodium wasting. Pseudohypoaldosteronism can be the result of a defective renal electrolyte transport protein or acquired after KIDNEY TRANSPLANTATION.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Background Aldosterone deficiency (hypoaldosteronism) or aldosterone resistance (pseudohypoaldosteronism) both result in defective aldosterone activity." | 5.56 | Aldosterone deficiency with a hormone profile mimicking pseudohypoaldosteronism. ( Argente, J; Martín-Rivada, Á; Martos-Moreno, GÁ, 2020) |
| "Salt wasting syndrome (hyponatremia, hyperkalemia, dehydration, metabolic acidosis) in early infancy could be caused by either mineralocorticoid deficiency as in congenital adrenal hyperplasia (CAH) and adrenal insufficiency or mineralocorticoid resistance as in pseudohypoaldosteronism (PHA)." | 5.46 | High aldosterone and cortisol levels in salt wasting congenital adrenal hyperplasia: a clinical conundrum. ( Boddu, SK; Madhavan, S, 2017) |
| "Pseudohypoaldosteronism (PHA) is characterized by urinary salt-wasting in infancy resulting from a congenital resistance to aldosterone involving the genes for the mineralocorticoid receptor (MR) and the amiloride-sensitive sodium channel (ENaC)." | 3.72 | Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism. ( Amemiya, S; Arai, K; Iketani, M; Nakagomi, Y; Ohyama, K; Shibasaki, T; Shimura, Y, 2003) |
| "In contrast to distal type I or classic renal tubular acidosis (RTA) that is associated with hypokalemia, hyperkalemic forms of RTA also occur usually in the setting of mild-to-moderate CKD." | 2.58 | Hyperkalemic Forms of Renal Tubular Acidosis: Clinical and Pathophysiological Aspects. ( Arruda, J; Batlle, D, 2018) |
| "Aldosterone plays an essential role in the maintenance of fluid and electrolyte homeostasis in the distal nephron." | 2.48 | Aldosterone resistance: structural and functional considerations and new perspectives. ( Fernandes-Rosa, FL; Hubert, EL; Zennaro, MC, 2012) |
| "These forms of hypertension are rather rare in their complete expression, but they point to candidate genes whose mutations may predispose to hypertension." | 2.42 | [Monogenic hypertension]. ( Bähr, V; Diederich, S; Oelkers, W, 2003) |
| "Pseudohypoaldosteronism was first described in 1958 by Cheek and Perry, who reported an infant with severe salt wasting in the absence of any renal or adrenal defect." | 2.39 | Mineralocorticoid resistance. ( Zennaro, MC, 1996) |
| "Pseudohypoaldosteronism is a rare inherited disease characterized by renal salt loss, hyperkalemia and metabolic acidosis despite highly elevated aldosterone values." | 2.38 | Pseudohypoaldosteronism and mineralocorticoid receptor abnormalities. ( Armanini, D; Da Dalt, L; Keller, U; Kuhnle, U; Mantero, F; Pratesi, C; Scali, U; Wehling, M; Zennaro, M, 1991) |
| "Pseudohypoaldosteronism type I is a rare genetic disease of mineralocorticoid resistance that typically manifests in neonatal age." | 1.56 | Failure to Thrive, Hyponatremia, Hyperkalemia - Differential Diagnostic Reflections of a Rare Genetic Disease. ( de Potzolli, B; Seeliger, S; Tropschuh, A, 2020) |
| "Background Aldosterone deficiency (hypoaldosteronism) or aldosterone resistance (pseudohypoaldosteronism) both result in defective aldosterone activity." | 1.56 | Aldosterone deficiency with a hormone profile mimicking pseudohypoaldosteronism. ( Argente, J; Martín-Rivada, Á; Martos-Moreno, GÁ, 2020) |
| "Background Type I pseudohypoaldosteronism (PHA1) is a rare condition characterised by profound salt wasting, hyperkalaemia and metabolic acidosis due to renal tubular resistance to aldosterone (PHA1a) or defective sodium epithelial channels (PHA1b or systemic PHA)." | 1.51 | Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1. ( Banerjee, I; Cheetham, T; Christian, M; Dimitri, P; Doshi, AB; Gopal-Kothandapani, JS; Mushtaq, T; Owen, C; Padidela, R; Ramakrishnan, R; Smith, K, 2019) |
| "Salt wasting syndrome (hyponatremia, hyperkalemia, dehydration, metabolic acidosis) in early infancy could be caused by either mineralocorticoid deficiency as in congenital adrenal hyperplasia (CAH) and adrenal insufficiency or mineralocorticoid resistance as in pseudohypoaldosteronism (PHA)." | 1.46 | High aldosterone and cortisol levels in salt wasting congenital adrenal hyperplasia: a clinical conundrum. ( Boddu, SK; Madhavan, S, 2017) |
| "Failure to thrive was the most common symptom with hyponatraemia on presentation." | 1.46 | Transient pseudohypoaldosteronism in infancy secondary to urinary tract infection. ( Abraham, MB; Choong, CS; Larkins, N; Shetty, VB, 2017) |
| "Renal pseudohypoaldosteronism type 1 is a rare autosomal-dominant disease caused by NR3C2 loss-of-function mutations, which is characterized by renal salt loss and compensatory high renin and aldo secretion." | 1.39 | Cardiovascular effects of aldosterone: insight from adult carriers of mineralocorticoid receptor mutations. ( Chillon, S; Couffignal, C; Escoubet, B; Jeunemaitre, X; Laisy, JP; Laouénan, C; Mangin, L; Mentré, F; Serfaty, JM; Zennaro, MC, 2013) |
| "Failure to thrive was noted in five of the six patients." | 1.39 | Clinical and molecular analysis of six Japanese patients with a renal form of pseudohypoaldosteronism type 1. ( Abe, M; Hamajima, T; Hara, S; Hatta, Y; Iwata, J; Kamijo, T; Nakamura, A; Okada, M; Tajima, T; Tsuyuki, K; Ushio, M, 2013) |
| "Aldosterone treatment for 3 h decreases ERK1/2 phosphorylation." | 1.38 | Dietary salt modulates the sodium chloride cotransporter expression likely through an aldosterone-mediated WNK4-ERK1/2 signaling pathway. ( Cai, H; Chen, J; Feng, X; Gu, Y; Lai, L; Liu, D; Niu, B; Zhang, Y, 2012) |
| "Pseudohypoaldosteronism type II is a salt-sensitive form of hypertension with hyperkalemia in humans caused by mutations in the with-no-lysine kinase 4 (WNK4)." | 1.38 | Activation of the renal Na+:Cl- cotransporter by angiotensin II is a WNK4-dependent process. ( Alessi, DR; Bobadilla, NA; Castañeda-Bueno, M; Cervantes-Pérez, LG; Doucet, A; Gamba, G; Kantesaria, S; Morla, L; Uribe, N; Vázquez, N, 2012) |
| "The renal form of pseudohypoaldosteronism type 1 (PHA1) is a rare disease caused by mutations in the human mineralocorticoid receptor gene (NR3C2)." | 1.34 | Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1. ( Balsamo, A; Baronio, F; Cicognani, A; Gennari, M; Menabò, S; Riepe, FG; Sippell, WG, 2007) |
| "The term "miliaria" is used to describe a group of highly transient skin disorders in the newborn characterized by eccrine duct obstruction and the passage of sweat into the epidermis and papillary dermis." | 1.34 | [Pustular miliaria rubra and systemic type 1b pseudohypoaldosteronism in a newborn]. ( Argoubi, H; Cambazard, F; Fitchner, C; Lavocat, MP; Richard, O; Stéphan, JL, 2007) |
| "The renal form of pseudohypoaldosteronism type 1 (PHA1) is a rare disease characterized by congenital mineralocorticoid resistance of the kidney." | 1.33 | Recurrence of the R947X mutation in unrelated families with autosomal dominant pseudohypoaldosteronism type 1: evidence for a mutational hot spot in the mineralocorticoid receptor gene. ( Antonini, SR; de Castro, M; Fernandes-Rosa, FL; Latronico, AC; Riepe, FG; Sippell, WG, 2006) |
| "The Liddle syndrome is a dominant form of salt-sensitive hypertension resulting from mutations in the beta or gamma subunit of ENaC." | 1.32 | Dysfunction of the epithelial sodium channel expressed in the kidney of a mouse model for Liddle syndrome. ( Bens, M; Gautschi, I; Hummler, E; Loffing, J; Pradervand, S; Rossier, BC; Schild, L; Vandewalle, A, 2003) |
| "Pseudohypoaldosteronism was diagnosed on the basis of hyponatremia, severe urinary salt loss despite the markedly elevated serum aldosterone up to 6,500 pg/ml (normal range 50-800 pg/ml)." | 1.31 | Pseudohypoaldosteronism: mineralocorticoid unresponsiveness syndrome. ( Janjindamai, W; Jaruratanasirikul, S, 2000) |
| "The diagnosis of hypoaldosteronism usually depends upon a combination of abnormal clinical and laboratory findings." | 1.29 | Diagnostic value of plasma aldosterone/potassium ratio in hypoaldosteronism. ( Lee, LS; Liao, ST; Shiah, CJ; Siauw, CP; Tsai, DM; Wu, KD, 1995) |
| "Aldosterone concentration was extremely high (64." | 1.29 | An infant with pseudohypoaldosteronism accompanied by cholelithiasis. ( Hanaki, K; Iitsuka, T; Kaibara, N; Nagaishi, J; Nagata, I; Ohzeki, T; Shimizu, N; Shiraki, K; Tsukuda, T; Urashima, H, 1994) |
| "Pseudohypoaldosteronism is a hereditary salt-wasting syndrome usually seen in infancy with weight loss, dehydration, and failure to thrive." | 1.29 | Reduced Na+, K(+)-ATPase activity in patients with pseudohypoaldosteronism. ( Aladjem, M; Bistritzer, T; Cotariu, D; Evans, S; Goldberg, M, 1994) |
| "In adults, persistent hyperkalemic distal renal tubular acidosis in the absence of impaired renal function is an unusual abnormality usually associated with the syndromes of aldosterone deficiency or resistance." | 1.29 | Pseudohypoaldosteronism with normal blood pressure. ( Laxdal, V; Morris, G; Shoker, A; Skomro, R, 1996) |
| "Pseudohypoaldosteronism is a rare hereditary disorder presenting in early infancy with renal salt loss leading to hyponatremia and hyperkalemia despite high levels of plasma aldosterone." | 1.28 | Pseudohypoaldosteronism in eight families: different forms of inheritance are evidence for various genetic defects. ( Armanini, D; Bosson, D; Knorr, D; Kuhnle, U; Nielsen, MD; Schlamp, D; Schroeter, CH; Tietze, HU, 1990) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 5 (4.46) | 18.7374 |
| 1990's | 37 (33.04) | 18.2507 |
| 2000's | 33 (29.46) | 29.6817 |
| 2010's | 28 (25.00) | 24.3611 |
| 2020's | 9 (8.04) | 2.80 |
| Authors | Studies |
|---|---|
| Tang, WW | 1 |
| Ma, WX | 1 |
| Sun, SY | 1 |
| Ran, XW | 1 |
| Coelho Almeida, A | 1 |
| Bastos Gomes, M | 1 |
| Martins, SA | 1 |
| Marques, OP | 1 |
| Gomes, MM | 1 |
| Antunes, AM | 1 |
| Mendes, LC | 1 |
| de Oliveira Magalhães, R | 1 |
| Pereira Dos Santos, RK | 1 |
| Araújo, RS | 1 |
| Szmigielska, A | 1 |
| Yavas Abali, Z | 1 |
| Yesil, G | 1 |
| Kirkgoz, T | 1 |
| Cicek, N | 1 |
| Alpay, H | 1 |
| Turan, S | 1 |
| Bereket, A | 1 |
| Guran, T | 1 |
| Tropschuh, A | 1 |
| de Potzolli, B | 1 |
| Seeliger, S | 1 |
| Martín-Rivada, Á | 1 |
| Argente, J | 1 |
| Martos-Moreno, GÁ | 1 |
| Hanukoglu, A | 6 |
| Vargas-Poussou, R | 1 |
| Landau, Z | 1 |
| Yosovich, K | 1 |
| Hureaux, M | 1 |
| Zennaro, MC | 14 |
| Shabbir, W | 1 |
| Topcagic, N | 1 |
| Aufy, M | 1 |
| Fernandes-Rosa, F | 1 |
| Grimm, PR | 1 |
| Coleman, R | 1 |
| Delpire, E | 1 |
| Welling, PA | 1 |
| Boddu, SK | 1 |
| Madhavan, S | 1 |
| Batlle, D | 1 |
| Arruda, J | 1 |
| Korkut, S | 1 |
| Akin, L | 2 |
| Hatipoglu, N | 1 |
| Özdemir, A | 1 |
| Gündüz, Z | 1 |
| Dursun, I | 2 |
| Korkmaz, L | 1 |
| Kurtoglu, S | 3 |
| Tanaka, T | 1 |
| Oki, E | 1 |
| Mori, T | 1 |
| Tsuruga, K | 1 |
| Sohara, E | 1 |
| Uchida, S | 2 |
| Tanaka, H | 1 |
| Atmis, B | 1 |
| Turan, İ | 1 |
| Melek, E | 1 |
| Bayazit, AK | 1 |
| Gopal-Kothandapani, JS | 1 |
| Doshi, AB | 1 |
| Smith, K | 1 |
| Christian, M | 1 |
| Mushtaq, T | 1 |
| Banerjee, I | 1 |
| Padidela, R | 1 |
| Ramakrishnan, R | 1 |
| Owen, C | 1 |
| Cheetham, T | 1 |
| Dimitri, P | 1 |
| Sopfe, J | 1 |
| Simmons, JH | 1 |
| Escoubet, B | 2 |
| Couffignal, C | 1 |
| Laisy, JP | 1 |
| Mangin, L | 1 |
| Chillon, S | 1 |
| Laouénan, C | 1 |
| Serfaty, JM | 1 |
| Jeunemaitre, X | 4 |
| Mentré, F | 1 |
| Poulsen, SB | 1 |
| Praetorius, J | 1 |
| Damkier, HH | 1 |
| Miller, L | 1 |
| Nelson, RD | 1 |
| Hummler, E | 4 |
| Christensen, BM | 1 |
| Liu, CC | 1 |
| Lin, SH | 1 |
| Sung, CC | 1 |
| Lin, CM | 1 |
| Canonica, J | 1 |
| Sergi, C | 1 |
| Maillard, M | 1 |
| Klusonova, P | 1 |
| Odermatt, A | 1 |
| Koesters, R | 1 |
| Loffing-Cueni, D | 1 |
| Loffing, J | 2 |
| Rossier, B | 1 |
| Frateschi, S | 1 |
| Abraham, MB | 1 |
| Larkins, N | 1 |
| Choong, CS | 1 |
| Shetty, VB | 1 |
| Edelheit, O | 1 |
| Shriki, Y | 1 |
| Gizewska, M | 1 |
| Dascal, N | 1 |
| Hanukoglu, I | 2 |
| Chiga, M | 1 |
| Rai, T | 1 |
| Yang, SS | 1 |
| Ohta, A | 1 |
| Takizawa, T | 1 |
| Sasaki, S | 1 |
| Riepe, FG | 4 |
| Schweiger, B | 1 |
| Moriarty, MW | 1 |
| Cadnapaphornchai, MA | 1 |
| Bogdanović, R | 1 |
| Stajić, N | 1 |
| Putnik, J | 1 |
| Paripović, A | 1 |
| Fuller, PJ | 2 |
| Yao, YZ | 1 |
| Komesaroff, PA | 1 |
| Smith, BJ | 1 |
| Kendirci, M | 1 |
| Akin, MA | 1 |
| Hartmann, MF | 1 |
| Wudy, SA | 1 |
| Fernandes-Rosa, FL | 5 |
| Hubert, EL | 3 |
| Fagart, J | 2 |
| Tchitchek, N | 1 |
| Gomes, D | 1 |
| Jouanno, E | 1 |
| Benecke, A | 1 |
| Rafestin-Oblin, ME | 2 |
| Antonini, SR | 3 |
| Kaneko, K | 1 |
| Manikam, L | 1 |
| Cornes, MP | 1 |
| Kalra, D | 1 |
| Ford, C | 1 |
| Gama, R | 1 |
| Teissier, R | 1 |
| Fay, M | 1 |
| Metz, C | 1 |
| Lai, L | 1 |
| Feng, X | 1 |
| Liu, D | 1 |
| Chen, J | 1 |
| Zhang, Y | 1 |
| Niu, B | 1 |
| Gu, Y | 1 |
| Cai, H | 1 |
| Castañeda-Bueno, M | 2 |
| Cervantes-Pérez, LG | 1 |
| Vázquez, N | 1 |
| Uribe, N | 1 |
| Kantesaria, S | 1 |
| Morla, L | 1 |
| Bobadilla, NA | 1 |
| Doucet, A | 1 |
| Alessi, DR | 1 |
| Gamba, G | 2 |
| Hatta, Y | 1 |
| Nakamura, A | 1 |
| Hara, S | 1 |
| Kamijo, T | 1 |
| Iwata, J | 1 |
| Hamajima, T | 1 |
| Abe, M | 1 |
| Okada, M | 1 |
| Ushio, M | 1 |
| Tsuyuki, K | 1 |
| Tajima, T | 2 |
| Nakashima, H | 1 |
| Kibe, T | 1 |
| Ohro, Y | 1 |
| Fujita, N | 1 |
| Balcells, C | 1 |
| Gili, T | 1 |
| Pérez, J | 1 |
| Corripio, R | 1 |
| Bonny, O | 1 |
| Knoers, N | 1 |
| Monnens, L | 1 |
| Rossier, BC | 3 |
| Maruyama, K | 1 |
| Watanabe, H | 1 |
| Onigata, K | 1 |
| Arai, K | 4 |
| Nakagomi, Y | 1 |
| Iketani, M | 1 |
| Shimura, Y | 1 |
| Amemiya, S | 1 |
| Ohyama, K | 1 |
| Shibasaki, T | 3 |
| Bähr, V | 1 |
| Oelkers, W | 1 |
| Diederich, S | 1 |
| Pradervand, S | 2 |
| Vandewalle, A | 1 |
| Bens, M | 1 |
| Gautschi, I | 1 |
| Schild, L | 1 |
| Sartorato, P | 2 |
| Khaldi, Y | 1 |
| Lapeyraque, AL | 1 |
| Armanini, D | 7 |
| Kuhnle, U | 8 |
| Salomon, R | 1 |
| Caprio, M | 1 |
| Viengchareun, S | 3 |
| Lombès, M | 5 |
| Cluzeaud, F | 1 |
| Geller, DS | 2 |
| de Castro, M | 1 |
| Latronico, AC | 1 |
| Sippell, WG | 2 |
| Proctor, G | 1 |
| Linas, S | 1 |
| Coffman, TM | 1 |
| Akcakus, M | 1 |
| Koklu, E | 1 |
| Poyrazoglu, H | 1 |
| Balsamo, A | 1 |
| Cicognani, A | 1 |
| Gennari, M | 1 |
| Menabò, S | 1 |
| Baronio, F | 1 |
| Ring, AM | 1 |
| Cheng, SX | 1 |
| Leng, Q | 1 |
| Kahle, KT | 1 |
| Rinehart, J | 1 |
| Lalioti, MD | 1 |
| Volkman, HM | 1 |
| Wilson, FH | 1 |
| Hebert, SC | 1 |
| Lifton, RP | 2 |
| Argoubi, H | 1 |
| Fitchner, C | 1 |
| Richard, O | 1 |
| Lavocat, MP | 1 |
| Cambazard, F | 1 |
| Stéphan, JL | 1 |
| Lim, HY | 1 |
| van den Brandt, J | 1 |
| Fassnacht, M | 1 |
| Allolio, B | 1 |
| Herold, MJ | 1 |
| Reichardt, HM | 1 |
| Shiah, CJ | 1 |
| Wu, KD | 1 |
| Tsai, DM | 1 |
| Liao, ST | 1 |
| Siauw, CP | 1 |
| Lee, LS | 1 |
| Wolthers, BG | 1 |
| Kraan, GP | 1 |
| van der Molen, JC | 1 |
| Nagel, GT | 1 |
| Rouwe, CW | 1 |
| Lenting, F | 1 |
| Boersma, ER | 1 |
| Endoh, A | 1 |
| Igarashi, Y | 1 |
| Muhammad, S | 1 |
| Mamish, ZM | 1 |
| Tucci, JR | 1 |
| Bistritzer, T | 3 |
| Rakover, Y | 1 |
| Mandelberg, A | 1 |
| White, PC | 1 |
| Borensztein, P | 2 |
| Soubrier, F | 2 |
| Hanaki, K | 1 |
| Ohzeki, T | 1 |
| Iitsuka, T | 1 |
| Nagata, I | 1 |
| Urashima, H | 1 |
| Tsukuda, T | 1 |
| Nagaishi, J | 1 |
| Shiraki, K | 1 |
| Shimizu, N | 1 |
| Kaibara, N | 1 |
| Evans, S | 2 |
| Cotariu, D | 1 |
| Goldberg, M | 1 |
| Aladjem, M | 2 |
| Corvol, P | 1 |
| Bayer, M | 1 |
| Kutílek, S | 1 |
| Lim-Tio, S | 1 |
| Shoker, A | 1 |
| Morris, G | 1 |
| Skomro, R | 1 |
| Laxdal, V | 1 |
| Hinkel, GK | 1 |
| Hubl, W | 1 |
| Reichelt, T | 1 |
| Naruse, K | 1 |
| Tanabe, A | 1 |
| Naruse, M | 1 |
| Demura, H | 1 |
| Gamarra, F | 1 |
| Simic-Schleicher, G | 1 |
| Huber, RM | 1 |
| Ulsenheimer, A | 1 |
| Scriba, PC | 1 |
| Wehling, M | 5 |
| Farman, N | 2 |
| Bonvalet, JP | 1 |
| Suzuki, Y | 1 |
| Sekihara, H | 1 |
| Joy, O | 1 |
| Steinitz, M | 1 |
| Rosler, A | 1 |
| McDonald, FJ | 1 |
| Yang, B | 1 |
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| Drummond, HA | 1 |
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| McCray, PB | 1 |
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| Williamson, RA | 1 |
| Barker, PM | 1 |
| Wang, Q | 1 |
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| Beermann, F | 1 |
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| Gatzy, JT | 1 |
| Zachman, K | 1 |
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| Malagon-Rogers, M | 1 |
| DuBose, TD | 1 |
| Jaruratanasirikul, S | 1 |
| Janjindamai, W | 1 |
| Kitagawa, H | 1 |
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| Tachibana, K | 1 |
| Adachi, M | 1 |
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| Gharavi, AG | 1 |
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| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Cardiovascular Evaluation of a Rare Condition With Hyperaldosteronism Without Hypertension: PHA 1[NCT00646828] | 98 participants (Actual) | Observational | 2008-05-31 | Completed | |||
| The Relationship Between Serine Threonine Kinase 39 (STK39) Genotypes, Salt Sensitivity, Thiazide Diuretics-induced Blood Pressure Response[NCT00896389] | Phase 4 | 124 participants (Actual) | Interventional | 2009-10-31 | Completed | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
Blood pressure change is defined as SBP or DBP average over the 24 hour period, Day 8 subtracts Day 0. (NCT00896389)
Timeframe: 24-hr Ambulatory blood pressure were measured every hour on day 0 and day 8
| Intervention | mmHg (Mean) | |||||
|---|---|---|---|---|---|---|
| DBP, Genotype GG | DBP, Genotype AG | DBP, Genotype AA | SBP, Genotype GG | SBP, Genotype AG | SBP, Genotype AA | |
| rs35929607 SNP | -2 | 0.7 | -1.7 | 1 | -1.3 | -4.5 |
Blood pressure change is defined as SBP or DBP average over the 24 hour period, Day 8 subtracts Day 0. (NCT00896389)
Timeframe: 24-hr Ambulatory blood pressure were measured every hour on day 0 and day 8
| Intervention | mmHg (Mean) | |||||
|---|---|---|---|---|---|---|
| DBP, Genotype GG | DBP, Genotype AG | DBP, Genotype AA | SBP, Genotype GG | SBP, Genotype AG | SBP, Genotype AA | |
| rs35929607 SNP | 0 | 2.0 | -1.1 | 1.0 | -0.7 | -4.2 |
"Systolic blood pressure (SBP) and diastolic blood pressure (DBP) were measured every 15 minutes for 4 hours.~Blood pressure change is calculated by the trapezoid method. Essentially we use the average of blood pressure at each pair of time points (for example, DBP 30min + DBP 15min)/2 + (DBP 45min + DBP 30min)/2 + … up to 4 hours.) normalized by baseline SBP/DBP." (NCT00896389)
Timeframe: Every 15 minutes for 4 hours
| Intervention | mmHg (Mean) | |||||
|---|---|---|---|---|---|---|
| DBP, Genotype GG | DBP, Genotype AG | DBP, Genotype AA | SBP, Genotype GG | SBP, Genotype AG | SBP, Genotype AA | |
| rs35929607 SNP | -25.5 | 34.6 | 23.2 | -41.4 | 62.9 | 44.8 |
Aldosterone is a hormone that plays a critical role in homeostatic regulation of blood pressure. Change is defined as the post-salt loading values minus the pre-salt loading values (NCT00896389)
Timeframe: Aldosterone was measured from blood collected pre and post salt loading
| Intervention | ng/dL (Mean) | ||
|---|---|---|---|
| Genotype GG | Genotype AG | Genotype AA | |
| rs35929607 SNP | -7.5 | -1.2 | -1.9 |
Renin is an enzyme that mediates extracellular fluid and regulates blood pressure. Plasma renin activity (PRA) is a measure of the activity of the plasma enzyme renin. PRA is measured in the laboratory by incubating plasma at physiologic temperature in a buffer that facilitates its enzymatic activity. The natural substrate for the enzyme renin is angiotensinogen. Exogenous angiotensinogen is not added to the reaction mixture. This means that, in effect, the PRA results reported are dependent on both renin concentration and the concentration of its substrate in the patient's plasma. Renin cleaves angiotensinogen to produce a decapeptide, angiotensin I, the concentration of which is assayed using liquid chromatography accompanied by tandem mass spectroscopic detection (LC/MS/MS). PRA levels are reported as the amount of angiotensin I generated per unit of time. Change is defined as the post-salt loading values minus the pre-salt loading values (NCT00896389)
Timeframe: Renin was measured from blood collected pre and post salt loading
| Intervention | ng/ml/h (Mean) | ||
|---|---|---|---|
| Genotype GG | Genotype AG | Genotype AA | |
| rs35929607 SNP | -0.8 | -0.3 | -0.4 |
Na/K ratio is a function of kidney function (NCT00896389)
Timeframe: Plasma sodium and potassium measured from blood collected pre and post salt loading
| Intervention | ratio (Mean) | ||
|---|---|---|---|
| Genotype GG | Genotype AG | Genotype AA | |
| rs35929607 SNP | 0.3 | -0.3 | 0.1 |
Na/K ratio is a function of kidney function (NCT00896389)
Timeframe: Plasma sodium and potassium measured from blood collected pre and post salt loading
| Intervention | ratio (Mean) | ||
|---|---|---|---|
| Genotype GG | Genotype AG | Genotype AA | |
| rs35929607 SNP | 1 | 0 | 2.3 |
Na/K ratio is a function of kidney function (NCT00896389)
Timeframe: Plasma sodium and potassium measured from blood collected pre and post salt loading
| Intervention | ratio (Mean) | ||
|---|---|---|---|
| Genotype GG | Genotype AG | Genotype AA | |
| rs35929607 SNP | 0 | 1.0 | 0.6 |
Values on Day 8 subtracts Day 0. (NCT00896389)
Timeframe: Fasting glucose was measured on day 0 and day 8
| Intervention | mmHg (Mean) | ||
|---|---|---|---|
| Fasting glucose, GG Genotype | Fasting glucose, AG Genotype | Fasting glucose, AA Genotype | |
| rs35929607 SNP | 1.0 | 1.0 | 2.3 |
Values on Day 8 subtracts Day 0. (NCT00896389)
Timeframe: Fasting glucose was measured on day 0 and day 8
| Intervention | mmHg (Mean) | ||
|---|---|---|---|
| Fasting glucose, GG Genotype | Fasting glucose, AG Genotype | Fasting glucose, AA Genotype | |
| rs35929607 SNP | 9 | 2 | -0.1 |
29 reviews available for aldosterone and Pseudohypoaldosteronism
| Article | Year |
|---|---|
A case of severe systemic type 1 pseudohypoaldosteronism with 10 years of evolution.
Topics: Aldosterone; Genetic Association Studies; Humans; Hyperkalemia; Hyponatremia; Pseudohypoaldosteronis | 2022 |
30 YEARS OF THE MINERALOCORTICOID RECEPTOR: Mineralocorticoid receptor mutations.
Topics: Aldosterone; Animals; Gene Expression Regulation; Humans; Molecular Structure; Mutation; Pseudohypoa | 2017 |
Hyperkalemic Forms of Renal Tubular Acidosis: Clinical and Pathophysiological Aspects.
Topics: Acidosis, Renal Tubular; Aldosterone; Animals; Epithelial Sodium Channels; Humans; Hydrogen-Ion Conc | 2018 |
Failure to thrive, hyponatremia, and hyperkalemia in a neonate.
Topics: Aldosterone; Diagnosis, Differential; Failure to Thrive; Humans; Hyperkalemia; Hyponatremia; Infant, | 2013 |
Clinical and molecular features of type 1 pseudohypoaldosteronism.
Topics: Aldosterone; Epithelial Cells; Epithelial Sodium Channels; Genotype; Humans; Infant; Models, Molecul | 2009 |
Transient type 1 pseudo-hypoaldosteronism: report on an eight-patient series and literature review.
Topics: Acid-Base Imbalance; Aldosterone; Bicarbonates; Child; Child, Preschool; Creatinine; Drug Resistance | 2009 |
[Pseudohypoaldosteronism type I].
Topics: Aldosterone; Child; Dialysis; Epithelial Sodium Channels; Humans; Hyperkalemia; Hyponatremia; Ion Ex | 2011 |
Aldosterone resistance: structural and functional considerations and new perspectives.
Topics: Aldosterone; Animals; Drug Resistance; Epithelial Sodium Channels; Genetic Association Studies; Huma | 2012 |
Mechanisms of sodium-chloride cotransporter modulation by angiotensin II.
Topics: Aldosterone; Angiotensin II; Animals; Humans; Pseudohypoaldosteronism; Renin-Angiotensin System; Sod | 2012 |
Pseudohypoaldosteronism.
Topics: Absorption; Aldosterone; Epithelial Sodium Channels; Humans; Models, Biological; Pseudohypoaldostero | 2013 |
[Monogenic hypertension].
Topics: Adolescent; Adult; Aldosterone; Child; Female; Genes, Dominant; Genotype; Humans; Hyperaldosteronism | 2003 |
Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism.
Topics: Aldosterone; Exons; Genes, Dominant; Humans; Hypokalemia; Hyponatremia; Kidney; Mineralocorticoids; | 2004 |
Mineralocorticoid resistance.
Topics: Aldosterone; Humans; Mutation; Pseudohypoaldosteronism; Receptors, Mineralocorticoid; Sodium Channel | 2004 |
Mineralocorticoid resistance.
Topics: Aldosterone; Genes, Dominant; Genes, Recessive; Genotype; Humans; Hypertension; Kidney; Mineralocort | 2005 |
[Pseudohypoaldosteronism: Pathogenesis, pathophysiology, and therapy].
Topics: Aldosterone; Calcium; Epithelial Sodium Channels; Exons; Humans; Intracellular Signaling Peptides an | 2006 |
Type 2 pseudohypoaldosteronism: new insights into renal potassium, sodium, and chloride handling.
Topics: Adult; Aldosterone; Chlorides; Electrolytes; Humans; Hyperkalemia; Intracellular Signaling Peptides | 2006 |
[Mineralocorticoid resistance: pseudohypoaldosteronism type 1].
Topics: Aldosterone; Epithelial Sodium Channels; Humans; Infant, Newborn; Male; Mutation; Pedigree; Pseudohy | 2007 |
[Pseudohypoaldosteronism (type I)].
Topics: Aldosterone; Humans; Pseudohypoaldosteronism | 1993 |
Type II pseudohypoaldosteronism. Report of a case and review of the literature.
Topics: Aldosterone; Atrial Natriuretic Factor; Female; Humans; Hyperkalemia; Hypertension; Middle Aged; Pot | 1994 |
Disorders of aldosterone biosynthesis and action.
Topics: Adrenal Hyperplasia, Congenital; Aldosterone; Cytochrome P-450 CYP11B2; Cytochrome P-450 Enzyme Syst | 1994 |
Mineralocorticoid resistance.
Topics: Aldosterone; Drug Resistance; Humans; Mineralocorticoids; Pseudohypoaldosteronism; Receptors, Minera | 1996 |
[Pseudohypoaldosteronism].
Topics: Aldosterone; Amiloride; Animals; Carbenoxolone; DNA; Humans; Pseudohypoaldosteronism; Receptors, Min | 1996 |
[Mineralocorticoid receptor].
Topics: Aldosterone; Biological Transport; Humans; Pseudohypoaldosteronism; Receptors, Mineralocorticoid; So | 1997 |
Molecular and pathophysiologic mechanisms of hyperkalemic metabolic acidosis.
Topics: Acidosis; Aldosterone; Ammonia; Chlorine; Genes, Dominant; Genes, Recessive; Humans; Hyperkalemia; K | 2000 |
Molecular mechanisms of human hypertension.
Topics: Aldosterone; Animals; Female; Genes, Recessive; Humans; Hypertension; Male; Mineralocorticoids; Mode | 2001 |
Transient pseudohypoaldosteronism secondary to posterior urethral valves--a case report and review of the literature.
Topics: Aldosterone; Diagnosis, Differential; Humans; Hyponatremia; Infant, Newborn; Male; Pseudohypoaldoste | 2001 |
Pseudohypoaldosteronism and mineralocorticoid receptor abnormalities.
Topics: Aldosterone; Female; Humans; Male; Mineralocorticoids; Pedigree; Pseudohypoaldosteronism; Receptors, | 1991 |
Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects.
Topics: Adult; Aging; Aldosterone; Child, Preschool; Female; Follow-Up Studies; Humans; Infant; Male; Pedigr | 1991 |
[Receptor-effector relations in the effect of adosterone on mononuclear leukocytes: validation and application to various water and electrolyte imbalances in humans].
Topics: Aldosterone; Cells, Cultured; Humans; Leukocytes, Mononuclear; Potassium Channels; Pseudohypoaldoste | 1989 |
1 trial available for aldosterone and Pseudohypoaldosteronism
| Article | Year |
|---|---|
Pseudohypoaldosteronism due to renal and multisystem resistance to mineralocorticoids respond differently to carbenoxolone.
Topics: Aldosterone; Anti-Ulcer Agents; Blotting, Southern; Carbenoxolone; Child; Child, Preschool; Diet; Dr | 1997 |
82 other studies available for aldosterone and Pseudohypoaldosteronism
| Article | Year |
|---|---|
[A Case of Pseudohypoaldosteronism Type Ⅱ (PHA2) Caused by a Novel Mutation of
Topics: Adaptor Proteins, Signal Transducing; Adult; Aldosterone; Female; Humans; Hypertension; Microfilamen | 2021 |
Pseudohypoaldosteronism associated with hypertrophic cardiomyopathy, hypertension and thrombocytosis due to mutation in the ELAC2 gene: a case report.
Topics: Aldosterone; Cardiomyopathy, Hypertrophic; Child; Humans; Hypertension; Mutation; Neoplasm Proteins; | 2022 |
Salt-Losing Syndrome in a Girl with Type I and II Pseudohypoaldosteronism.
Topics: Acidosis; Aldosterone; Female; Humans; Hyperkalemia; Hypertension; Hyponatremia; Infant; Pseudohypoa | 2022 |
Rare cause of severe hypertension in an adolescent boy presenting with short stature: Answers.
Topics: Adolescent; Aldosterone; Body Height; Cullin Proteins; Developmental Disabilities; Diagnosis, Differ | 2020 |
Failure to Thrive, Hyponatremia, Hyperkalemia - Differential Diagnostic Reflections of a Rare Genetic Disease.
Topics: Adult; Aldosterone; Child, Preschool; Diagnosis, Differential; Failure to Thrive; Humans; Hyperkalem | 2020 |
Aldosterone deficiency with a hormone profile mimicking pseudohypoaldosteronism.
Topics: Aldosterone; Child; Child Development; Child, Preschool; Cytochrome P-450 CYP11B2; Diagnosis, Differ | 2020 |
Renin-aldosterone system evaluation over four decades in an extended family with autosomal dominant pseudohypoaldosteronism due to a deletion in the NR3C2 gene.
Topics: Aldosterone; Gene Deletion; Humans; Infant; Infant, Newborn; Pedigree; Pseudohypoaldosteronism; Rece | 2020 |
Activation of autosomal recessive Pseudohypoaldosteronism1 ENaC with aldosterone.
Topics: Aldosterone; Codon, Terminator; Epithelial Sodium Channels; HEK293 Cells; Humans; Kidney Tubules, Di | 2021 |
Constitutively Active SPAK Causes Hyperkalemia by Activating NCC and Remodeling Distal Tubules.
Topics: Aldosterone; Animals; Blood Pressure; Epithelial Sodium Channels; Hydrochlorothiazide; Kidney Tubule | 2017 |
High aldosterone and cortisol levels in salt wasting congenital adrenal hyperplasia: a clinical conundrum.
Topics: Acidosis; Adrenal Hyperplasia, Congenital; Aldosterone; Child; Dehydration; Diagnosis, Differential; | 2017 |
A potential serious complication in infants with congenital obstructive uropathy: Secondary pseudohypoaldosteronism.
Topics: Aldosterone; Diagnosis, Differential; Female; Humans; Hyperkalemia; Hyponatremia; Infant; Male; Natr | 2019 |
Complete clinical resolution of a Japanese family with renal pseudohypoaldosteronism type 1 due to a novel NR3C2 mutation.
Topics: Age Factors; Aldosterone; Child, Preschool; Failure to Thrive; Genetic Association Studies; Humans; | 2019 |
An infant with hyponatremia, hyperkalemia, and metabolic acidosis associated with urinary tract infection: Answers.
Topics: Acidosis; Aldosterone; Anti-Bacterial Agents; Female; Humans; Hyperkalemia; Hyponatremia; Infant; Ps | 2019 |
Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1.
Topics: Aldosterone; Biomarkers; Child; Child, Preschool; Cross-Sectional Studies; Epithelial Sodium Channel | 2019 |
Cardiovascular effects of aldosterone: insight from adult carriers of mineralocorticoid receptor mutations.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Aldosterone; Blood Pressure; Body Composition; Case-Cont | 2013 |
Reducing αENaC expression in the kidney connecting tubule induces pseudohypoaldosteronism type 1 symptoms during K+ loading.
Topics: Aldosterone; Animals; Body Weight; Colon; Diet; Eating; Epithelial Sodium Channels; Female; Kidney T | 2016 |
A neonate with poor weight gain and hyperkalemia: Answers.
Topics: Aldosterone; Humans; Hyperkalemia; Hyponatremia; Infant, Newborn; Pseudohypoaldosteronism; Weight Ga | 2017 |
Adult nephron-specific MR-deficient mice develop a severe renal PHA-1 phenotype.
Topics: Aldosterone; Animals; Epithelial Cells; Epithelial Sodium Channels; Gene Deletion; Mice; Nephrons; P | 2016 |
Transient pseudohypoaldosteronism in infancy secondary to urinary tract infection.
Topics: Aldosterone; Failure to Thrive; Follow-Up Studies; Humans; Hyponatremia; Infant; Male; Pseudohypoald | 2017 |
Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genes.
Topics: Adolescent; Aldosterone; Child; Child, Preschool; Epithelial Sodium Channels; Growth; Humans; Infant | 2008 |
Dietary salt regulates the phosphorylation of OSR1/SPAK kinases and the sodium chloride cotransporter through aldosterone.
Topics: Aldosterone; Animals; Disease Models, Animal; Mice; Phosphorylation; Protein Kinases; Protein Serine | 2008 |
Case report: severe neonatal hyperkalemia due to pseudohypoaldosteronism type 1.
Topics: Aldosterone; Citrates; Dietary Supplements; Electrocardiography; Epithelial Sodium Channels; Female; | 2009 |
Pseudohypoaldosteronism type 1: the index case revisited.
Topics: Aldosterone; DNA Mutational Analysis; Humans; Male; Middle Aged; Models, Molecular; Mutation; Protei | 2011 |
Hook effect: a pitfall leading to misdiagnosis of hypoaldosteronism in an infant with pseudohypoaldosteronism.
Topics: Aldosterone; Cytochrome P-450 CYP11B2; Diagnosis, Differential; Humans; Hyperkalemia; Hypoaldosteron | 2010 |
Mineralocorticoid receptor mutations differentially affect individual gene expression profiles in pseudohypoaldosteronism type 1.
Topics: Aldosterone; Gene Expression; Gene Expression Profiling; Heterozygote; Humans; Models, Molecular; Mu | 2011 |
Transient pseudohypoaldosteronism masquerading as congenital adrenal hyperplasia.
Topics: Adrenal Hyperplasia, Congenital; Aldosterone; Chimerism; Chromosome Aberrations; Diagnosis, Differen | 2011 |
Mineralocorticoid receptor mutations and a severe recessive pseudohypoaldosteronism type 1.
Topics: Aldosterone; Animals; Child, Preschool; Chlorocebus aethiops; Codon, Nonsense; Codon, Terminator; CO | 2011 |
Dietary salt modulates the sodium chloride cotransporter expression likely through an aldosterone-mediated WNK4-ERK1/2 signaling pathway.
Topics: Aldosterone; Animals; HEK293 Cells; Humans; MAP Kinase Signaling System; Protein Serine-Threonine Ki | 2012 |
Activation of the renal Na+:Cl- cotransporter by angiotensin II is a WNK4-dependent process.
Topics: Aldosterone; Angiotensin II; Animals; Blood Pressure; Diet, Sodium-Restricted; DNA Primers; Immunobl | 2012 |
Clinical and molecular analysis of six Japanese patients with a renal form of pseudohypoaldosteronism type 1.
Topics: Aldosterone; Failure to Thrive; Female; Heterozygote; Humans; Infant; Infant, Newborn; Japan; Kidney | 2013 |
Neonatal renal venous thrombosis followed by secondary pseudohypoaldosteronism.
Topics: Aldosterone; Follow-Up Studies; Humans; Infant, Newborn; Male; Pseudohypoaldosteronism; Renal Veins; | 2012 |
Pseudohypoaldosteronism without nephropathy masking salt-wasting congenital adrenal hyperplasia genetically confirmed.
Topics: Adrenal Glands; Adrenal Hyperplasia, Congenital; Aldosterone; Alleles; Diagnosis, Differential; Emer | 2013 |
A novel mutation of the epithelial Na+ channel causes type 1 pseudohypoaldosteronism.
Topics: Aldosterone; Animals; Exons; Female; Frameshift Mutation; Humans; Infant, Newborn; Male; Mutation; O | 2002 |
Reversible secondary pseudohypoaldosteronism due to pyelonephritis.
Topics: Acute Disease; Aldosterone; Failure to Thrive; Humans; Hyperkalemia; Hyponatremia; Infant; Male; Phi | 2002 |
Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism.
Topics: Aldosterone; Amiloride; Animals; Base Sequence; Child, Preschool; COS Cells; Drug Resistance; Epithe | 2003 |
Dysfunction of the epithelial sodium channel expressed in the kidney of a mouse model for Liddle syndrome.
Topics: Aldosterone; Animals; Body Weight; Culture Techniques; Disease Models, Animal; Electrolytes; Epithel | 2003 |
New naturally occurring missense mutations of the human mineralocorticoid receptor disclose important residues involved in dynamic interactions with deoxyribonucleic acid, intracellular trafficking, and ligand binding.
Topics: Aldosterone; Amino Acid Sequence; Amino Acid Substitution; Animals; Cell Nucleus; Cells, Cultured; D | 2004 |
Recurrence of the R947X mutation in unrelated families with autosomal dominant pseudohypoaldosteronism type 1: evidence for a mutational hot spot in the mineralocorticoid receptor gene.
Topics: 17-alpha-Hydroxyprogesterone; Aldosterone; DNA; Female; Humans; Hydrocortisone; Infant; Infant, Newb | 2006 |
A WNK in the kidney controls blood pressure.
Topics: Aldosterone; Animals; Biological Transport; Blood Pressure; Humans; Hypertension; Kidney; Protein Se | 2006 |
Newborn with pseudohypoaldosteronism and miliaria rubra.
Topics: Aldosterone; Chlorides; Diagnosis, Differential; Humans; Infant, Newborn; Male; Miliaria; Pseudohypo | 2006 |
Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1.
Topics: Adult; Aldosterone; Child, Preschool; Codon, Nonsense; DNA Mutational Analysis; Female; Frameshift M | 2007 |
WNK4 regulates activity of the epithelial Na+ channel in vitro and in vivo.
Topics: Aldosterone; Animals; Colon; Epithelial Sodium Channels; Hyperkalemia; Hypertension; Mice; Mice, Tra | 2007 |
[Pustular miliaria rubra and systemic type 1b pseudohypoaldosteronism in a newborn].
Topics: Aldosterone; Chlorides; Feces; Female; Humans; Infant, Newborn; Miliaria; Pseudohypoaldosteronism; S | 2007 |
Silencing of the mineralocorticoid receptor by ribonucleic acid interference in transgenic rats disrupts endocrine homeostasis.
Topics: Age Factors; Aldosterone; Animals; Animals, Genetically Modified; Cells, Cultured; Endocrine System; | 2008 |
Diagnostic value of plasma aldosterone/potassium ratio in hypoaldosteronism.
Topics: Adult; Aged; Aged, 80 and over; Aldosterone; Case-Control Studies; Diagnosis, Differential; Female; | 1995 |
Urinary steroid profile of a newborn suffering from pseudohypoaldosteronism.
Topics: Aldosterone; Humans; Infant, Newborn; Pseudohypoaldosteronism; Retrospective Studies; Steroids | 1995 |
Pseudohypoaldosteronism with increased sweat and saliva electrolyte values and frequent lower respiratory tract infections mimicking cystic fibrosis.
Topics: Aldosterone; Child; Cystic Fibrosis; Diagnosis, Differential; Diseases in Twins; Female; Humans; Inf | 1994 |
No alteration in the primary structure of the mineralocorticoid receptor in a family with pseudohypoaldosteronism.
Topics: Aldosterone; Blotting, Southern; Deoxyribonucleases, Type II Site-Specific; DNA, Complementary; Drug | 1994 |
An infant with pseudohypoaldosteronism accompanied by cholelithiasis.
Topics: Aldosterone; Cholelithiasis; Electrolytes; Female; Fludrocortisone; Humans; Infant, Newborn; Pseudoh | 1994 |
Reduced Na+, K(+)-ATPase activity in patients with pseudohypoaldosteronism.
Topics: Aldosterone; Diseases in Twins; Erythrocytes; Female; Humans; Hypoaldosteronism; Infant; Infant, New | 1994 |
The enigma of pseudohypoaldosteronism.
Topics: Aldosterone; Female; France; Humans; Infant; Male; Pedigree; Pseudohypoaldosteronism; Renin | 1994 |
Contribution to problems of pseudohypoaldosteronism type I in children.
Topics: Aldosterone; Child; Humans; Kidney Tubules; Potassium; Pseudohypoaldosteronism; Receptors, Mineraloc | 1993 |
Aldosterone action, sodium channels and inherited disease.
Topics: Aldosterone; Epithelium; Humans; Hypertension; Hypokalemia; Metabolism, Inborn Errors; Mineralocorti | 1996 |
Pseudohypoaldosteronism with normal blood pressure.
Topics: Acidosis, Renal Tubular; Adult; Aldosterone; Bicarbonates; Blood Pressure; Chlorides; Diuretics; Fem | 1996 |
Pseudohypoaldosteronism: family studies to identify asymptomatic carriers by stimulation of the renin-aldosterone system.
Topics: Adolescent; Adult; Aldosterone; Case-Control Studies; Child; Child, Preschool; Female; Furosemide; G | 1996 |
Impaired rapid mineralocorticoid action on free intracellular calcium in pseudohypoaldosteronism.
Topics: Adult; Aldosterone; Calcium; Cells, Cultured; Female; Fura-2; Humans; Infant; Intracellular Membrane | 1997 |
Tissue-specific expression of alpha and beta messenger ribonucleic acid isoforms of the human mineralocorticoid receptor in normal and pathological states.
Topics: Aldosterone; Alternative Splicing; Colon; Exons; Gene Expression; Humans; In Situ Hybridization; Int | 1997 |
Disruption of the beta subunit of the epithelial Na+ channel in mice: hyperkalemia and neonatal death associated with a pseudohypoaldosteronism phenotype.
Topics: Aldosterone; Animals; Animals, Newborn; Blastocyst; Chimera; Death; Epithelial Sodium Channels; Geno | 1999 |
Salt restriction induces pseudohypoaldosteronism type 1 in mice expressing low levels of the beta-subunit of the amiloride-sensitive epithelial sodium channel.
Topics: Aldosterone; Amiloride; Animals; Blood Pressure; Body Weight; Colon; Diet, Sodium-Restricted; Epithe | 1999 |
Polymorphisms of amiloride-sensitive sodium channel subunits in five sporadic cases of pseudohypoaldosteronism: do they have pathologic potential?
Topics: Adolescent; Aldosterone; Amiloride; Base Sequence; Child, Preschool; DNA; Drug Resistance; Female; H | 1999 |
A patient with pseudohypoaldosteronism type 1 and respiratory distress syndrome.
Topics: Aldosterone; Humans; Hyponatremia; Infant, Newborn; Male; Pseudohypoaldosteronism; Radiography, Thor | 1999 |
Disorders of the epithelial sodium channel: insights into the regulation of extracellular volume and blood pressure.
Topics: Acid-Base Equilibrium; Adolescent; Aldosterone; Blood Pressure; Blood Volume; Epithelial Cells; Epit | 1999 |
Pseudohypoaldosteronism: mineralocorticoid unresponsiveness syndrome.
Topics: Aldosterone; Diagnosis, Differential; Electrolytes; Humans; Hydrocortisone; Infant, Newborn; Male; P | 2000 |
A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1.
Topics: Adolescent; Adult; Aged; Aldosterone; Child; Exons; Female; Gene Deletion; Humans; Infant; Infant, N | 2000 |
Transient pseudohypoaldosteronism with complex malformation of internal genitalia. A case report.
Topics: 17-alpha-Hydroxyprogesterone; Adrenocorticotropic Hormone; Aldosterone; Antibiotic Prophylaxis; Dehy | 2000 |
Growth hormone activates renin-aldosterone system in children with idiopathic short stature and in a pseudohypoaldosteronism patient with a mutation in epithelial sodium channel alpha subunit.
Topics: Aldosterone; Body Weight; Child; Developmental Disabilities; Epithelial Sodium Channels; Growth Horm | 2001 |
Cyclosporine a and FK506 inhibit transcriptional activity of the human mineralocorticoid receptor: a cell-based model to investigate partial aldosterone resistance in kidney transplantation.
Topics: Aldosterone; beta-Galactosidase; Blotting, Northern; Cyclosporine; Depression, Chemical; Genes, MDR; | 2002 |
Erythrocyte Na+,K+-ATPase and nasal potential in pseudohypoaldosteronism.
Topics: Aldosterone; Amiloride; Case-Control Studies; Child; Child, Preschool; Diseases in Twins; Diuretics; | 2002 |
Erythrocyte transmembrane Na and K fluxes in pseudohypoaldosteronism.
Topics: Aldosterone; Erythrocyte Membrane; Humans; Infant, Newborn; Potassium; Pseudohypoaldosteronism; Reni | 1992 |
Normokalaemic pseudohypoaldosteronism is present in children with acute pyelonephritis.
Topics: Adolescent; Aldosterone; Child; Child, Preschool; Endotoxins; Escherichia coli; Female; Gentamicins; | 1992 |
Severe tubular resistance to aldosterone in a child with familial juvenile nephronophthisis.
Topics: Aldosterone; Child; Female; Humans; Hyperkalemia; Kidney Diseases, Cystic; Kidney Function Tests; Ki | 1992 |
[Pseudohypoaldosteronism--as a neonatal emergency].
Topics: Adrenocorticotropic Hormone; Aldosterone; Electrolytes; Emergencies; Humans; Infant, Newborn; Pseudo | 1990 |
Long term observations in a patient with pseudohypoaldosteronism.
Topics: Aldosterone; Child; Child, Preschool; Humans; Infant; Infant, Newborn; Male; Pseudohypoaldosteronism | 1991 |
Hyperkalemia and hypertension: is this a "chloride-shunt" disorder?
Topics: Acidosis; Adolescent; Aldosterone; Chlorides; Diuretics; Female; Humans; Hyperkalemia; Hypertension; | 1990 |
Pseudohypoaldosteronism in eight families: different forms of inheritance are evidence for various genetic defects.
Topics: Adolescent; Adult; Aldosterone; Child; Female; Humans; Leukocytes, Mononuclear; Male; Middle Aged; P | 1990 |
Apparent mineralocorticoid excess, pseudohypoaldosteronism, and urinary electrolyte excretion: toward a redefinition of mineralocorticoid action.
Topics: 11-beta-Hydroxysteroid Dehydrogenases; Adrenalectomy; Aldosterone; Androstanols; Animals; Bicarbonat | 1990 |
A new syndrome: hearing loss and familial salivary gland insensitivity to aldosterone in two brothers.
Topics: Aldosterone; Genes, Recessive; Hearing Loss, Sensorineural; Humans; Hyponatremia; Infant; Infant, Ne | 1990 |
Transtubular potassium concentration gradient: a useful test to estimate renal aldosterone bio-activity in infants and children.
Topics: Adolescent; Aldosterone; Child; Child, Preschool; Female; Humans; Hypoaldosteronism; Infant; Kidney; | 1990 |
Inheritance of mineralocorticoid effector abnormalities of human mononuclear leucocytes in families with pseudohypoaldosteronism.
Topics: Aldosterone; Female; Humans; In Vitro Techniques; Leukocytes, Mononuclear; Male; Pedigree; Potassium | 1989 |
[Arterial hypertension with hyperkalemia, tubular acidosis and normal renal function: Gordon syndrome and/or pseudohypoaldosteronism type II?].
Topics: Acidosis, Renal Tubular; Aldosterone; Atrial Natriuretic Factor; Humans; Hyperkalemia; Hypertension; | 1988 |
[A case of mineralocorticoid-resistant renal hyperkalemia without sodium wasting (type II pseudohypoaldosteronism)].
Topics: Adult; Aldosterone; Cortisone; Female; Humans; Potassium; Pseudohypoaldosteronism; Renal Tubular Tra | 1988 |
Lack of effect of aldosterone on intracellular sodium and potassium in mononuclear leucocytes from patients with pseudohypoaldosteronism.
Topics: Adult; Aldosterone; Child, Preschool; Female; Humans; Intracellular Fluid; Leukocytes, Mononuclear; | 1988 |