uric acid has been researched along with Kidney Tubular Transport, Inborn Error in 75 studies
Uric Acid: An oxidation product, via XANTHINE OXIDASE, of oxypurines such as XANTHINE and HYPOXANTHINE. It is the final oxidation product of purine catabolism in humans and primates, whereas in most other mammals URATE OXIDASE further oxidizes it to ALLANTOIN.
uric acid : An oxopurine that is the final oxidation product of purine metabolism.
6-hydroxy-1H-purine-2,8(7H,9H)-dione : A tautomer of uric acid having oxo groups at C-2 and C-8 and a hydroxy group at C-6.
7,9-dihydro-1H-purine-2,6,8(3H)-trione : An oxopurine in which the purine ring is substituted by oxo groups at positions 2, 6, and 8.
Excerpt | Relevance | Reference |
---|---|---|
"This narrative review aims to highlight recent findings on the relation between uric acid level and cognitive decline or dementia." | 7.88 | Uric acid and cognitive decline: a double-edge sword? ( Bardin, T; Latourte, A; Richette, P, 2018) |
"Although hyperuricemia has been associated with CKD in many studies, it remains controversial whether this is the cause or the result of decreased renal function." | 6.66 | Renal effects of uric acid: hyperuricemia and hypouricemia. ( Jo, YI; Lee, JH; Park, JH, 2020) |
"In addition to the controversy regarding the association of hyperuricemia with mortality, uncertainty also remains regarding the association between low serum uric acid (SUA) and mortality." | 3.96 | U-Shaped Association of Serum Uric Acid With All-Cause and Cause-Specific Mortality in US Adults: A Cohort Study. ( Bao, H; Cheng, X; Hu, G; Hu, L; Wang, T; Xu, BP; Zhou, W; Zhu, L, 2020) |
"This narrative review aims to highlight recent findings on the relation between uric acid level and cognitive decline or dementia." | 3.88 | Uric acid and cognitive decline: a double-edge sword? ( Bardin, T; Latourte, A; Richette, P, 2018) |
"Familial renal hypouricemia (RHUC) is a hereditary disease characterized by hypouricemia, high renal fractional excretion of uric acid (FE-UA) and can be complicated by acute kidney failure and nephrolithiasis." | 3.80 | Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity. ( Cancarini, G; Chiarelli, N; Colombi, M; Gaggiotti, M; Jeannin, G; Maiorca, P; Possenti, S; Quinzani, S; Ritelli, M; Verzeletti, F, 2014) |
"Renal hypouricemia (RHUC) is a heterogeneous inherited disorder characterized by impaired tubular uric acid (UA) transport with severe complications, such as acute kidney injury (AKI)." | 3.79 | Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis. ( Hulkova, H; Ichida, K; Jahnova, H; Krylov, V; Kryspinova, L; Nakamura, M; Sebesta, I; Stiburkova, B, 2013) |
"Renal hypouricaemia is a heterogeneous inherited disorder characterized by impaired tubular uric acid transport with severe complications, such as acute kidney injury and nephrolithiasis." | 3.78 | Acute kidney injury in two children caused by renal hypouricaemia type 2. ( Marinaki, AM; Sebesta, I; Stiburkova, B; Taylor, J, 2012) |
"Although hyperuricemia has been associated with CKD in many studies, it remains controversial whether this is the cause or the result of decreased renal function." | 2.66 | Renal effects of uric acid: hyperuricemia and hypouricemia. ( Jo, YI; Lee, JH; Park, JH, 2020) |
"Uric acid (UA) serves as an antioxidant in vascular endothelial cells." | 1.42 | Depletion of Uric Acid Due to SLC22A12 (URAT1) Loss-of-Function Mutation Causes Endothelial Dysfunction in Hypouricemia. ( Hamada, T; Higashi, Y; Hisatome, I; Ichida, K; Kato, M; Kuwabara, M; Maharani, N; Ninomiya, H; Niwa, K; Ogino, K; Sugihara, S; Yamamoto, K, 2015) |
"Exercise-induced acute renal failure [exercise-induced acute kidney injury (EI-AKI)] is defined as AKI due to heavy anaerobic exercise." | 1.39 | Molecular background of urate transporter genes in patients with exercise-induced acute kidney injury. ( Iijima, K; Ishimori, S; Kaito, H; Nakanishi, K; Nozu, K; Shima, Y; Yoshikawa, N, 2013) |
"During acute renal failure, the highest level of uric acid was 5." | 1.29 | Acute renal failure after exercise in a child with renal hypouricemia. ( Fujieda, M; Hamada, G; Kurashige, T; Oishi, N; Okada, T; Yokoyama, W, 1995) |
"The mechanism of acute renal failure in this disease remains unknown." | 1.29 | [Exercise-induced acute renal failure observed in a boy with idiopathic renal hypouricemia caused by postsecretary reabsorption defect of uric acid]. ( Minowa, S; Morooka, M; Takeichi, S; Tazawa, M; Yasaki, T, 1996) |
" Uric acid clearance did not show any appreciable change after long-term administration of ticrynafen." | 1.26 | A case of familial renal hypouricemia associated with increased secretion of para-aminohippurate and idiopathic edema. ( Aonuma, K; Ito, Y; Matsuda, O; Shiigai, T; Takeuchi, J, 1982) |
"In a woman with hereditary fructose intolerance and intact parathyroid function, the experimental administration of fructose at different dosage schedules invariably induced the dose-dependent, complex dysfunction of the proximal renal tubule now recognized as characteristic." | 1.25 | Modulation of experimental renal dysfunction of hereditary fructose intolerance by circulating parathyroid hormone. ( McSherry, E; Morris, RC; Sebastian, A, 1971) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 22 (29.33) | 18.7374 |
1990's | 7 (9.33) | 18.2507 |
2000's | 7 (9.33) | 29.6817 |
2010's | 30 (40.00) | 24.3611 |
2020's | 9 (12.00) | 2.80 |
Authors | Studies |
---|---|
Miyauchi, T | 1 |
Terashita, M | 1 |
Ogata, M | 1 |
Murata, M | 1 |
Osako, K | 1 |
Imai, N | 1 |
Sakurai, Y | 1 |
Sasaki, H | 1 |
Ohashi, Y | 2 |
Ichida, K | 7 |
Shibagaki, Y | 1 |
Yazawa, M | 1 |
Mazzierli, T | 3 |
Cirillo, L | 3 |
Palazzo, V | 3 |
Ravaglia, F | 3 |
Becherucci, F | 3 |
Köksoy, AY | 1 |
Görükmez, Ö | 1 |
Dorum, S | 1 |
Perdomo-Ramírez, A | 1 |
Ramos-Trujillo, E | 1 |
Claverie-Martín, F | 1 |
Hu, L | 1 |
Hu, G | 1 |
Xu, BP | 1 |
Zhu, L | 1 |
Zhou, W | 1 |
Wang, T | 1 |
Bao, H | 1 |
Cheng, X | 1 |
Furuto, Y | 1 |
Kawamura, M | 1 |
Namikawa, A | 1 |
Takahashi, H | 1 |
Shibuya, Y | 1 |
Mori, T | 2 |
Sohara, E | 2 |
Sebesta, I | 8 |
Miyamoto, D | 1 |
Stiburkova, B | 8 |
Blahova, S | 1 |
Sato, N | 1 |
Nagata, K | 1 |
Okamoto, K | 1 |
Tsuruoka, S | 1 |
Sekiya, M | 1 |
Matsuda, T | 1 |
Yamamoto, Y | 1 |
Furuta, Y | 1 |
Ohyama, M | 1 |
Murayama, Y | 1 |
Sugano, Y | 1 |
Ohsaki, Y | 1 |
Iwasaki, H | 1 |
Yahagi, N | 1 |
Yatoh, S | 1 |
Suzuki, H | 1 |
Shimano, H | 1 |
Tsuji, K | 2 |
Kitamura, M | 1 |
Muta, K | 1 |
Mochizuki, Y | 1 |
Uchida, S | 3 |
Sakai, H | 1 |
Mukae, H | 1 |
Nishino, T | 1 |
Park, JH | 1 |
Jo, YI | 1 |
Lee, JH | 1 |
Kuwabara, M | 2 |
Niwa, K | 2 |
Ohtahara, A | 1 |
Hamada, T | 2 |
Miyazaki, S | 1 |
Mizuta, E | 1 |
Ogino, K | 2 |
Hisatome, I | 3 |
Latourte, A | 1 |
Bardin, T | 1 |
Richette, P | 1 |
Krijt, J | 1 |
Zhou, Z | 1 |
Ma, L | 1 |
Zhou, J | 1 |
Song, Z | 1 |
Zhang, J | 1 |
Wang, K | 1 |
Chen, B | 1 |
Pan, D | 1 |
Li, Z | 1 |
Li, C | 1 |
Shi, Y | 1 |
Du, J | 1 |
Jiang, Y | 1 |
Wang, O | 1 |
Li, M | 1 |
Xing, XP | 1 |
Xia, W | 1 |
Kaito, H | 1 |
Ishimori, S | 1 |
Nozu, K | 1 |
Shima, Y | 1 |
Nakanishi, K | 1 |
Yoshikawa, N | 1 |
Iijima, K | 1 |
Jeannin, G | 1 |
Chiarelli, N | 1 |
Gaggiotti, M | 1 |
Ritelli, M | 1 |
Maiorca, P | 1 |
Quinzani, S | 1 |
Verzeletti, F | 1 |
Possenti, S | 1 |
Colombi, M | 1 |
Cancarini, G | 1 |
Ku, E | 1 |
Thomas, M | 1 |
Ho, CH | 1 |
Whipple, NS | 1 |
Abdul-Rahman, O | 1 |
Megason, GC | 1 |
Herrington, BL | 1 |
Carmody, JB | 1 |
Charlton, JR | 1 |
Sugihara, S | 1 |
Maharani, N | 1 |
Kato, M | 1 |
Ninomiya, H | 1 |
Higashi, Y | 1 |
Yamamoto, K | 1 |
Iso, T | 1 |
Kurabayashi, M | 1 |
Wakasugi, M | 1 |
Kazama, JJ | 1 |
Narita, I | 1 |
Konta, T | 1 |
Fujimoto, S | 1 |
Iseki, K | 1 |
Moriyama, T | 2 |
Yamagata, K | 1 |
Tsuruya, K | 1 |
Asahi, K | 1 |
Kimura, K | 1 |
Kondo, M | 1 |
Kurahashi, I | 1 |
Watanabe, T | 1 |
Ouchi, M | 1 |
Otani, N | 1 |
Anzai, N | 1 |
Stekrova, J | 1 |
Nakamura, M | 2 |
Taniguchi, K | 1 |
Tamura, Y | 1 |
Kumagai, T | 1 |
Shibata, S | 1 |
Hosoyamada, M | 2 |
Tsurumi, Y | 1 |
Hirano, H | 1 |
Tomioka, NH | 1 |
Sekine, Y | 1 |
Morisaki, T | 1 |
Esparza Martín, N | 1 |
García Nieto, V | 1 |
Kuriki, S | 1 |
Okada, R | 1 |
Suzuki, K | 1 |
Ito, Y | 2 |
Morita, E | 1 |
Naito, M | 1 |
Hamajima, N | 1 |
Dinour, D | 1 |
Gray, NK | 1 |
Ganon, L | 1 |
Knox, AJ | 1 |
Shalev, H | 1 |
Sela, BA | 1 |
Campbell, S | 1 |
Sawyer, L | 1 |
Shu, X | 1 |
Valsamidou, E | 1 |
Landau, D | 1 |
Wright, AF | 1 |
Holtzman, EJ | 1 |
Ochi, A | 1 |
Takei, T | 1 |
Ichikawa, A | 1 |
Kojima, C | 1 |
Itabashi, M | 1 |
Mochizuki, T | 1 |
Taniguchi, A | 1 |
Nitta, K | 1 |
Kawamura, Y | 1 |
Matsuo, H | 2 |
Chiba, T | 1 |
Nagamori, S | 1 |
Nakayama, A | 1 |
Inoue, H | 1 |
Utsumi, Y | 1 |
Oda, T | 2 |
Nishiyama, J | 1 |
Kanai, Y | 1 |
Shinomiya, N | 1 |
Taylor, J | 1 |
Marinaki, AM | 1 |
Hiratochi, M | 1 |
Tatani, K | 1 |
Shimizu, K | 1 |
Kuramochi, Y | 1 |
Kikuchi, N | 1 |
Kamada, N | 1 |
Itoh, F | 1 |
Isaji, M | 1 |
Takagi, S | 1 |
Omae, R | 1 |
Makanga, JO | 1 |
Kawahara, T | 1 |
Inazu, T | 1 |
Hulkova, H | 1 |
Krylov, V | 1 |
Kryspinova, L | 1 |
Jahnova, H | 1 |
Igarashi, T | 1 |
Wakida, N | 1 |
Tuyen, DG | 1 |
Adachi, M | 1 |
Miyoshi, T | 1 |
Nonoguchi, H | 1 |
Oka, T | 1 |
Ueda, O | 1 |
Tazawa, M | 2 |
Kurihara, S | 1 |
Yoneta, Y | 1 |
Shimada, H | 1 |
Kikuchi, Y | 1 |
Endou, H | 2 |
Otagiri, M | 1 |
Tomita, K | 1 |
Kitamura, K | 1 |
Enomoto, A | 1 |
Ohtsuka, Y | 1 |
Zaitsu, M | 1 |
Isomura, N | 1 |
Sato, T | 1 |
Hamasaki, Y | 1 |
Kitamura, T | 1 |
Homma, Y | 1 |
Nishimura, Y | 1 |
Chatys-Górska, L | 1 |
Zwolińska, D | 1 |
Prusek, W | 1 |
Stapleton, FB | 1 |
Nash, DA | 1 |
Sasaki, S | 2 |
Fujiwara, Y | 1 |
Takamitsu, Y | 1 |
Ueda, N | 1 |
Orita, Y | 1 |
Abe, H | 1 |
Matsuda, O | 1 |
Shiigai, T | 1 |
Aonuma, K | 1 |
Takeuchi, J | 1 |
Garty, BZ | 1 |
Nitzan, M | 1 |
Sperling, O | 5 |
Suzuki, T | 2 |
Kidoguchi, K | 1 |
Hayashi, A | 1 |
Hedley, JM | 1 |
Phillips, PJ | 1 |
Murakami, T | 1 |
Kawakami, H | 1 |
Fukuda, M | 1 |
Furukawa, S | 1 |
Gofrit, O | 1 |
Verstandig, AG | 1 |
Pode, D | 1 |
Fujieda, M | 1 |
Yokoyama, W | 1 |
Oishi, N | 1 |
Okada, T | 1 |
Kurashige, T | 1 |
Hamada, G | 1 |
Morooka, M | 1 |
Takeichi, S | 1 |
Minowa, S | 1 |
Yasaki, T | 1 |
Yim, JJ | 1 |
Oh, KH | 1 |
Chin, H | 1 |
Ahn, C | 1 |
Kim, SH | 1 |
Han, JS | 1 |
Kim, S | 1 |
Lee, JS | 1 |
Asami, T | 1 |
Kurihara, I | 1 |
Soma, J | 1 |
Sato, H | 1 |
Ikarashi, T | 1 |
Tsunoda, K | 1 |
Miura, R | 1 |
Sato, M | 1 |
Furuyama, T | 1 |
Ito, S | 1 |
Saito, T | 1 |
Gadomska-Prokop, K | 1 |
Konopielko, Z | 1 |
Takeda, Y | 1 |
Fujimoto, T | 1 |
Uyama, H | 1 |
Shiiki, H | 1 |
Yamano, S | 1 |
Kanauchi, M | 1 |
Yabuta, M | 1 |
Dohi, K | 1 |
Savi, M | 1 |
de Vries, A | 3 |
Benjamin, D | 2 |
Weinberg, A | 1 |
Pinkhas, J | 2 |
Weinberger, A | 2 |
Akaoka, I | 2 |
Nishizawa, T | 2 |
Yano, E | 2 |
Kamtani, N | 1 |
Nishida, Y | 2 |
Rieselbach, RE | 1 |
Steele, TH | 1 |
Boer, P | 1 |
Takeuchi, A | 1 |
Zawadzki, J | 1 |
Januszewicz, P | 1 |
Gafter, U | 1 |
Zuta, A | 1 |
Frydman, M | 1 |
Lewinski, UH | 1 |
Levi, J | 1 |
Larrañaga, JR | 1 |
Ferrón Vidan, F | 1 |
Pousa Estévez, L | 1 |
Atanes García, C | 1 |
Mardomingo Varela, P | 1 |
Passwell, J | 1 |
Zipperkowski, L | 1 |
Katznelson, D | 1 |
Szeinberg, A | 1 |
Crispin, M | 1 |
Pollak, S | 1 |
Goodman, R | 1 |
Bat-Miriam, M | 1 |
Cohen, BE | 1 |
Greene, ML | 1 |
Marcus, R | 1 |
Aurbach, GD | 1 |
Kazam, ES | 1 |
Seegmiller, JE | 1 |
Morris, RC | 1 |
McSherry, E | 1 |
Sebastian, A | 1 |
Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
---|---|---|---|---|---|---|---|
Losartan and Uric Acid Metabolism in Children With Proteinuric Nephropathies: a Cross-over Randomized Clinical Trail[NCT05402397] | Phase 4 | 40 participants (Anticipated) | Interventional | 2022-07-01 | Recruiting | ||
[information is prepared from clinicaltrials.gov, extracted Sep-2024] |
11 reviews available for uric acid and Kidney Tubular Transport, Inborn Error
Article | Year |
---|---|
Renal hypouricemia in a recipient of living-donor kidney transplantation: a case report and literature review.
Topics: Aged; Female; Humans; Kidney; Kidney Transplantation; Living Donors; Male; Organic Anion Transporter | 2022 |
Clinical features suggesting renal hypouricemia as the cause of acute kidney injury: a case report and review of the literature.
Topics: Acute Kidney Injury; Humans; Renal Tubular Transport, Inborn Errors; Uric Acid; Urinary Calculi | 2023 |
Clinical features suggesting renal hypouricemia as the cause of acute kidney injury: a case report and review of the literature.
Topics: Acute Kidney Injury; Humans; Renal Tubular Transport, Inborn Errors; Uric Acid; Urinary Calculi | 2023 |
Clinical features suggesting renal hypouricemia as the cause of acute kidney injury: a case report and review of the literature.
Topics: Acute Kidney Injury; Humans; Renal Tubular Transport, Inborn Errors; Uric Acid; Urinary Calculi | 2023 |
Clinical features suggesting renal hypouricemia as the cause of acute kidney injury: a case report and review of the literature.
Topics: Acute Kidney Injury; Humans; Renal Tubular Transport, Inborn Errors; Uric Acid; Urinary Calculi | 2023 |
Clinical features suggesting renal hypouricemia as the cause of acute kidney injury: a case report and review of the literature.
Topics: Acute Kidney Injury; Humans; Renal Tubular Transport, Inborn Errors; Uric Acid; Urinary Calculi | 2023 |
Clinical features suggesting renal hypouricemia as the cause of acute kidney injury: a case report and review of the literature.
Topics: Acute Kidney Injury; Humans; Renal Tubular Transport, Inborn Errors; Uric Acid; Urinary Calculi | 2023 |
Clinical features suggesting renal hypouricemia as the cause of acute kidney injury: a case report and review of the literature.
Topics: Acute Kidney Injury; Humans; Renal Tubular Transport, Inborn Errors; Uric Acid; Urinary Calculi | 2023 |
Clinical features suggesting renal hypouricemia as the cause of acute kidney injury: a case report and review of the literature.
Topics: Acute Kidney Injury; Humans; Renal Tubular Transport, Inborn Errors; Uric Acid; Urinary Calculi | 2023 |
Clinical features suggesting renal hypouricemia as the cause of acute kidney injury: a case report and review of the literature.
Topics: Acute Kidney Injury; Humans; Renal Tubular Transport, Inborn Errors; Uric Acid; Urinary Calculi | 2023 |
Renal effects of uric acid: hyperuricemia and hypouricemia.
Topics: Adolescent; Adult; Biomarkers; Child; Disease Progression; Female; Humans; Hyperuricemia; Kidney; Re | 2020 |
[Impact of serum uric acid level on the cardiovascular system as a risk factor].
Topics: Adipokines; Benzbromarone; Cardiovascular Diseases; Hyperuricemia; Kidney; Organic Anion Transporter | 2010 |
Hypouricemia and tubular transport of uric acid.
Topics: Absorption; Biological Transport; Diabetes Complications; Diagnosis, Differential; Fluid Therapy; Gl | 2011 |
Genetic disorders resulting in hyper- or hypouricemia.
Topics: Gout; Humans; Hyperuricemia; Renal Insufficiency, Chronic; Renal Tubular Transport, Inborn Errors; U | 2012 |
[Water electrolyte imbalance associated with kidney tubular transport inborn error].
Topics: Acute Kidney Injury; Bartter Syndrome; Carrier Proteins; Chromosomes, Human, Pair 11; Exercise; Huma | 2003 |
Roles of organic anion transporters (OATs) and a urate transporter (URAT1) in the pathophysiology of human disease.
Topics: Acute Kidney Injury; Animals; Carnitine; Carrier Proteins; Free Radical Scavengers; Humans; Kidney F | 2005 |
[Hereditary renal hypouricemia].
Topics: Biomarkers; Creatinine; Diagnosis, Differential; Humans; Kidney Tubules, Proximal; Prognosis; Renal | 1998 |
[Genetic bases of metabolic tubular nephropathies].
Topics: Acidosis, Renal Tubular; Amino Acids; Bartter Syndrome; Cystinuria; Diabetes Insipidus; Fanconi Synd | 1979 |
[Disorders of tubular transport of uric acid leading to hyperuricemia].
Topics: Adult; Child; Circadian Rhythm; Female; Glomerular Filtration Rate; Humans; Hypertension, Renal; Kid | 1992 |
64 other studies available for uric acid and Kidney Tubular Transport, Inborn Error
Article | Year |
---|---|
Clinical significance of hypouricemia in children and adolescents.
Topics: Acidosis, Renal Tubular; Adolescent; Azotemia; Child; Humans; Metabolism, Inborn Errors; Renal Tubul | 2023 |
New
Topics: Computational Biology; Exome Sequencing; Glucose Transport Proteins, Facilitative; Humans; Male; Org | 2023 |
U-Shaped Association of Serum Uric Acid With All-Cause and Cause-Specific Mortality in US Adults: A Cohort Study.
Topics: Adult; Cardiovascular Diseases; Cause of Death; Cohort Studies; Female; Humans; Hyperuricemia; Male; | 2020 |
Non-urate transporter 1, non-glucose transporter member 9-related renal hypouricemia and acute renal failure accompanied by hyperbilirubinemia after anaerobic exercise: a case report.
Topics: Acute Kidney Injury; Adult; Diet Therapy; Exercise; Fluid Therapy; Glucose Transport Proteins, Facil | 2019 |
Modified forearm ischemic test in hypouricemic patients.
Topics: Adult; Exercise Test; Female; Forearm; Humans; Hypoxanthine; Ischemia; Lactic Acid; Male; Middle Age | 2020 |
Deciphering genetic signatures by whole exome sequencing in a case of co-prevalence of severe renal hypouricemia and diabetes with impaired insulin secretion.
Topics: Aged; Diabetes Complications; Exome Sequencing; Glucose; Glucose Transport Proteins, Facilitative; H | 2020 |
Transplantation of a kidney with a heterozygous mutation in the SLC22A12 (URAT1) gene causing renal hypouricemia: a case report.
Topics: Adult; Chimerism; Female; Heterozygote; High-Throughput Nucleotide Sequencing; Humans; Kidney Transp | 2020 |
Prevalence and complications of hypouricemia in a general population: A large-scale cross-sectional study in Japan.
Topics: Adult; Cross-Sectional Studies; Female; Hospitals; Humans; Japan; Kidney Diseases; Male; Middle Aged | 2017 |
Uric acid and cognitive decline: a double-edge sword?
Topics: Cognitive Dysfunction; Cross-Sectional Studies; Dementia; Gout; Humans; Hyperuricemia; Oxidative Str | 2018 |
Hypouricemia and hyperuricosuria in a pubescent girl: Answers.
Topics: Acute Kidney Injury; Allopurinol; Antioxidants; Child; Cystinosis; Diagnosis, Differential; Fanconi | 2018 |
Hereditary xanthinuria is not so rare disorder of purine metabolism.
Topics: Adult; Aldehyde Oxidase; Allopurinol; Child; Child, Preschool; Czech Republic; Diagnosis, Differenti | 2018 |
Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.
Topics: Adult; Asian People; Female; Heterozygote; Humans; Male; Mutation; Organic Anion Transporters; Organ | 2018 |
URAT1 mutations cause renal hypouricaemia combined with Fanconi syndrome in a Chinese patient.
Topics: Asian People; DNA Mutational Analysis; Fanconi Syndrome; Genetic Predisposition to Disease; Humans; | 2018 |
Molecular background of urate transporter genes in patients with exercise-induced acute kidney injury.
Topics: Acute Kidney Injury; Adolescent; Adult; Child; Exercise; Female; Genome; Glucose Transport Proteins, | 2013 |
Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity.
Topics: Acute Kidney Injury; Adolescent; Adult; Aged; Asian People; Base Sequence; Child; Child, Preschool; | 2014 |
Index of suspicion. Case 1: fever, diarrhea, jaundice, and confusion in an 18-year-old male. Case 2: severe anemia in a 6-month-old girl. Case 3: red urine in a 4-month-old boy.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Anemia; Anti-Inflammatory Agents; Confusion; Congeni | 2014 |
Purine disorders with hypouricemia.
Topics: Adolescent; Adult; Child; Female; Genetic Predisposition to Disease; Humans; Male; Purine-Pyrimidine | 2014 |
Depletion of Uric Acid Due to SLC22A12 (URAT1) Loss-of-Function Mutation Causes Endothelial Dysfunction in Hypouricemia.
Topics: Adult; Endothelium, Vascular; Female; Heterozygote; Human Umbilical Vein Endothelial Cells; Humans; | 2015 |
Extremely low levels of serum uric acid are associated with endothelial dysfunction in humans.
Topics: Endothelium, Vascular; Female; Heterozygote; Human Umbilical Vein Endothelial Cells; Humans; Male; O | 2015 |
Association between hypouricemia and reduced kidney function: a cross-sectional population-based study in Japan.
Topics: Age Factors; Aged; Cross-Sectional Studies; Diabetes Mellitus; Female; Glomerular Filtration Rate; H | 2015 |
[Disturbance of uric acid metabolism].
Topics: Gout; Humans; Hyperuricemia; Kidney Diseases; Metabolism, Inborn Errors; Nucleic Acids; Renal Tubula | 2015 |
Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease.
Topics: Adult; Aged; Alleles; Animals; Czech Republic; DNA Mutational Analysis; Family Health; Female; Gene | 2015 |
Stimulation of V1a receptor increases renal uric acid clearance via urate transporters: insight into pathogenesis of hypouricemia in SIADH.
Topics: Animals; Aquaporin 2; ATP Binding Cassette Transporter, Subfamily G, Member 2; Inappropriate ADH Syn | 2016 |
Urat1-Uox double knockout mice are experimental animal models of renal hypouricemia and exercise-induced acute kidney injury.
Topics: Acute Kidney Injury; Allopurinol; Animals; Creatinine; Disease Models, Animal; Gout Suppressants; Ma | 2016 |
Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia.
Topics: Adolescent; Base Sequence; Case-Control Studies; Female; Genetic Association Studies; Glomerular Fil | 2011 |
SLC22A12 W258X frequency according to serum uric acid level among Japanese health checkup examinees.
Topics: Adult; Aged; Aged, 80 and over; Amino Acid Substitution; Asian People; Female; Gene Frequency; Genot | 2011 |
Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2.
Topics: Adult; Aged, 80 and over; Animals; Child; Child, Preschool; Female; Glucose Transport Proteins, Faci | 2012 |
A case of acute renal failure after exercise with renal hypouricemia demonstrated compound heterozygous mutations of uric acid transporter 1.
Topics: Acute Kidney Injury; Adolescent; Exercise; Humans; Male; Mutation; Organic Anion Transporters; Organ | 2012 |
Pathogenic GLUT9 mutations causing renal hypouricemia type 2 (RHUC2).
Topics: Amino Acids; Biological Transport; Cell Membrane; Conserved Sequence; Glucose Transport Proteins, Fa | 2011 |
Acute kidney injury in two children caused by renal hypouricaemia type 2.
Topics: Acute Kidney Injury; Adolescent; Child; DNA Mutational Analysis; Glucose Transport Proteins, Facilit | 2012 |
Hypouricemic effects of novel concentrative nucleoside transporter 2 inhibitors through suppressing intestinal absorption of purine nucleosides.
Topics: Animals; Biological Transport; Cebus; Chlorocebus aethiops; COS Cells; Dose-Response Relationship, D | 2012 |
Simple and rapid detection method for the mutations in SLC22A12 that cause hypouricemia by allele-specific real-time polymerase chain reaction.
Topics: Alleles; Asian People; Biological Transport; DNA Primers; Gene Frequency; Genotype; Genotyping Techn | 2013 |
Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis.
Topics: Absorption; Acute Kidney Injury; Adult; Alleles; Animals; Child; Czech Republic; Endoplasmic Reticul | 2013 |
Mutations in human urate transporter 1 gene in presecretory reabsorption defect type of familial renal hypouricemia.
Topics: Adolescent; Adult; Aged; Carrier Proteins; Child; Female; Genotype; Humans; Male; Microsatellite Rep | 2005 |
Human uric acid transporter 1 gene analysis in familial renal hypo-uricemia associated with exercise-induced acute renal failure.
Topics: Acute Kidney Injury; Adolescent; Child; Exercise; Female; Heterozygote; Homozygote; Humans; Male; Mi | 2007 |
[A case of familial renal hypouricemia associated with bladder cancer].
Topics: Aged; Benzbromarone; Carcinoma, Transitional Cell; Humans; Male; Probenecid; Pyrazinamide; Renal Tub | 1984 |
[Biochemical and clinical renal symptoms in Lowe syndrome].
Topics: Acidosis, Renal Tubular; Amino Acids; Bicarbonates; Carbon Dioxide; Child; Creatinine; Electrolytes; | 1980 |
A screening test for hyperuricosuria.
Topics: Adolescent; Child; Child, Preschool; Glomerular Filtration Rate; Humans; Infant; Purine-Pyrimidine M | 1983 |
Congenital hypouricemia.
Topics: Adolescent; Adult; Asian People; Female; Humans; Japan; Kidney Calculi; Kidney Tubules; Male; Middle | 1980 |
Hypouricemia due to an isolated defect in renal tubular urate reabsorption.
Topics: Adult; beta 2-Microglobulin; Chronic Disease; Glomerulonephritis; Humans; Kidney; Male; Phosphates; | 1980 |
A case of familial renal hypouricemia associated with increased secretion of para-aminohippurate and idiopathic edema.
Topics: Adult; Aged; Aminohippuric Acids; Edema; Female; Humans; Kidney Function Tests; Male; p-Aminohippuri | 1982 |
Inborn hypouricemia due to isolated defect in renal tubular uric acid transport.
Topics: Child; Humans; Male; Pedigree; Renal Tubular Transport, Inborn Errors; Uric Acid | 1981 |
Genetic heterogeneity of familial hypouricemia due to isolated renal tubular defect.
Topics: Adult; Genes, Dominant; Humans; Male; Pedigree; Renal Tubular Transport, Inborn Errors; Uric Acid | 1981 |
Familial hypouricaemia associated with renal tubular uricosuria and uric acid calculi: case report.
Topics: Adult; Female; Humans; Kidney Calculi; Male; Middle Aged; Renal Tubular Transport, Inborn Errors; Ur | 1980 |
Patients with renal hypouricemia are prone to develop acute renal failure--why?
Topics: Acute Kidney Injury; Humans; Renal Tubular Transport, Inborn Errors; Uric Acid | 1995 |
Bilateral obstructing ureteral uric acid stones in an infant with hereditary renal hypouricemia.
Topics: Acute Kidney Injury; Humans; Infant; Lithotripsy; Male; Renal Tubular Transport, Inborn Errors; Uret | 1993 |
Acute renal failure after exercise in a child with renal hypouricemia.
Topics: Acute Kidney Injury; Adolescent; Appendicitis; Exercise; Humans; Male; Renal Tubular Transport, Inbo | 1995 |
[Exercise-induced acute renal failure observed in a boy with idiopathic renal hypouricemia caused by postsecretary reabsorption defect of uric acid].
Topics: Absorption; Acute Kidney Injury; Child; Exercise; Family Health; Humans; Male; Renal Tubular Transpo | 1996 |
Exercise-induced acute renal failure in a patient with congenital renal hypouricaemia.
Topics: Acute Kidney Injury; Adolescent; Exercise; Humans; Male; Renal Tubular Transport, Inborn Errors; Uri | 1998 |
A case of exercise-induced acute renal failure in a patient with enhanced renal hypouricaemia.
Topics: Acute Kidney Injury; Adult; Benzbromarone; Exercise; Humans; Male; Pyrazinamide; Renal Tubular Trans | 2000 |
[Uric acid metabolism in children with hyperuricosuria].
Topics: Child; Female; Humans; Male; Renal Tubular Transport, Inborn Errors; Uric Acid; Urinary Calculi | 2000 |
[Two cases of exercise-induced acute renal failure with idiopathic renal hypouricemia].
Topics: Acute Kidney Injury; Adult; Exercise; Humans; Male; Renal Tubular Transport, Inborn Errors; Uric Aci | 2001 |
Inborn hypouricemia due to isolated renal tubular defect.
Topics: Adult; Calcium; Chromosome Aberrations; Chromosome Disorders; Female; Glomerular Filtration Rate; Hu | 1979 |
Familial hypouricemia due to isolated renal tubular abnormality.
Topics: Chromosome Aberrations; Chromosome Disorders; Genes, Recessive; Humans; Male; Middle Aged; Probeneci | 1978 |
Familial renal hypouricemia due to isolated tubular defect.
Topics: Adult; Female; Humans; Kidney Function Tests; Pedigree; Probenecid; Pyrazinamide; Renal Tubular Tran | 1977 |
Renal urate excretion in five cases of hypouricemia with an isolated renal defect of urate transport.
Topics: Adult; Humans; Male; Middle Aged; Pedigree; Probenecid; Pyrazinamide; Renal Tubular Transport, Inbor | 1977 |
Intrinsic renal disease leading to abnormal urate excretion.
Topics: Acute Kidney Injury; Gout; Humans; Kidney Diseases; Kidney Failure, Chronic; Kidney Tubules; Metabol | 1975 |
Transport into erythrocytes and intestinal absorption of uric acid in hereditary renal hypouricemia.
Topics: Biological Transport; Erythrocytes; Humans; Hypoxanthines; Intestinal Absorption; Phenotype; Probene | 1975 |
Familial hypouricaemia due to renal tubular defect of urate transport.
Topics: Adult; Chromosome Aberrations; Chromosome Disorders; Circadian Rhythm; Creatinine; Humans; Male; Ped | 1975 |
Hypouricemia due to familial isolated renal tubular uricosuria. Evaluation with the combined pyrazinamide-probenecid test.
Topics: Creatinine; Female; Humans; Kidney; Middle Aged; Probenecid; Pyrazinamide; Renal Tubular Transport, | 1989 |
[Hypouricemia caused by an isolated tubular defect. Apropos of a case].
Topics: Humans; Male; Middle Aged; Probenecid; Pyrazinamide; Renal Tubular Transport, Inborn Errors; Uric Ac | 1985 |
A syndrome characterized by congenital ichthyosis with atrophy, mental retardation, dwarfism, and generalized aminoaciduria.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Atrophy; Biopsy; Child; Consanguinity; Dermatoglyp | 1973 |
Hypouricemia due to isolated renal tubular defect. Dalmatian dog mutation in man.
Topics: Adult; Calcium; Calcium Isotopes; Calcium, Dietary; Diet Therapy; Humans; Kidney Tubules; Male; Oxal | 1972 |
Modulation of experimental renal dysfunction of hereditary fructose intolerance by circulating parathyroid hormone.
Topics: Adult; Bicarbonates; Calcium; Carbohydrate Metabolism, Inborn Errors; Feedback; Female; Fructose; Hu | 1971 |