Page last updated: 2024-10-20

uric acid and Kidney Tubular Transport, Inborn Error

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.

Research Excerpts

ExcerptRelevanceReference
"This narrative review aims to highlight recent findings on the relation between uric acid level and cognitive decline or dementia."7.88Uric 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."6.66Renal 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."3.96U-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."3.88Uric 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."3.80Recurrent 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)."3.79Novel 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."3.78Acute 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."2.66Renal 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."1.42Depletion 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."1.39Molecular 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."1.29Acute 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."1.26A 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."1.25Modulation of experimental renal dysfunction of hereditary fructose intolerance by circulating parathyroid hormone. ( McSherry, E; Morris, RC; Sebastian, A, 1971)

Research

Studies (75)

TimeframeStudies, this research(%)All Research%
pre-199022 (29.33)18.7374
1990's7 (9.33)18.2507
2000's7 (9.33)29.6817
2010's30 (40.00)24.3611
2020's9 (12.00)2.80

Authors

AuthorsStudies
Miyauchi, T1
Terashita, M1
Ogata, M1
Murata, M1
Osako, K1
Imai, N1
Sakurai, Y1
Sasaki, H1
Ohashi, Y2
Ichida, K7
Shibagaki, Y1
Yazawa, M1
Mazzierli, T3
Cirillo, L3
Palazzo, V3
Ravaglia, F3
Becherucci, F3
Köksoy, AY1
Görükmez, Ö1
Dorum, S1
Perdomo-Ramírez, A1
Ramos-Trujillo, E1
Claverie-Martín, F1
Hu, L1
Hu, G1
Xu, BP1
Zhu, L1
Zhou, W1
Wang, T1
Bao, H1
Cheng, X1
Furuto, Y1
Kawamura, M1
Namikawa, A1
Takahashi, H1
Shibuya, Y1
Mori, T2
Sohara, E2
Sebesta, I8
Miyamoto, D1
Stiburkova, B8
Blahova, S1
Sato, N1
Nagata, K1
Okamoto, K1
Tsuruoka, S1
Sekiya, M1
Matsuda, T1
Yamamoto, Y1
Furuta, Y1
Ohyama, M1
Murayama, Y1
Sugano, Y1
Ohsaki, Y1
Iwasaki, H1
Yahagi, N1
Yatoh, S1
Suzuki, H1
Shimano, H1
Tsuji, K2
Kitamura, M1
Muta, K1
Mochizuki, Y1
Uchida, S3
Sakai, H1
Mukae, H1
Nishino, T1
Park, JH1
Jo, YI1
Lee, JH1
Kuwabara, M2
Niwa, K2
Ohtahara, A1
Hamada, T2
Miyazaki, S1
Mizuta, E1
Ogino, K2
Hisatome, I3
Latourte, A1
Bardin, T1
Richette, P1
Krijt, J1
Zhou, Z1
Ma, L1
Zhou, J1
Song, Z1
Zhang, J1
Wang, K1
Chen, B1
Pan, D1
Li, Z1
Li, C1
Shi, Y1
Du, J1
Jiang, Y1
Wang, O1
Li, M1
Xing, XP1
Xia, W1
Kaito, H1
Ishimori, S1
Nozu, K1
Shima, Y1
Nakanishi, K1
Yoshikawa, N1
Iijima, K1
Jeannin, G1
Chiarelli, N1
Gaggiotti, M1
Ritelli, M1
Maiorca, P1
Quinzani, S1
Verzeletti, F1
Possenti, S1
Colombi, M1
Cancarini, G1
Ku, E1
Thomas, M1
Ho, CH1
Whipple, NS1
Abdul-Rahman, O1
Megason, GC1
Herrington, BL1
Carmody, JB1
Charlton, JR1
Sugihara, S1
Maharani, N1
Kato, M1
Ninomiya, H1
Higashi, Y1
Yamamoto, K1
Iso, T1
Kurabayashi, M1
Wakasugi, M1
Kazama, JJ1
Narita, I1
Konta, T1
Fujimoto, S1
Iseki, K1
Moriyama, T2
Yamagata, K1
Tsuruya, K1
Asahi, K1
Kimura, K1
Kondo, M1
Kurahashi, I1
Watanabe, T1
Ouchi, M1
Otani, N1
Anzai, N1
Stekrova, J1
Nakamura, M2
Taniguchi, K1
Tamura, Y1
Kumagai, T1
Shibata, S1
Hosoyamada, M2
Tsurumi, Y1
Hirano, H1
Tomioka, NH1
Sekine, Y1
Morisaki, T1
Esparza Martín, N1
García Nieto, V1
Kuriki, S1
Okada, R1
Suzuki, K1
Ito, Y2
Morita, E1
Naito, M1
Hamajima, N1
Dinour, D1
Gray, NK1
Ganon, L1
Knox, AJ1
Shalev, H1
Sela, BA1
Campbell, S1
Sawyer, L1
Shu, X1
Valsamidou, E1
Landau, D1
Wright, AF1
Holtzman, EJ1
Ochi, A1
Takei, T1
Ichikawa, A1
Kojima, C1
Itabashi, M1
Mochizuki, T1
Taniguchi, A1
Nitta, K1
Kawamura, Y1
Matsuo, H2
Chiba, T1
Nagamori, S1
Nakayama, A1
Inoue, H1
Utsumi, Y1
Oda, T2
Nishiyama, J1
Kanai, Y1
Shinomiya, N1
Taylor, J1
Marinaki, AM1
Hiratochi, M1
Tatani, K1
Shimizu, K1
Kuramochi, Y1
Kikuchi, N1
Kamada, N1
Itoh, F1
Isaji, M1
Takagi, S1
Omae, R1
Makanga, JO1
Kawahara, T1
Inazu, T1
Hulkova, H1
Krylov, V1
Kryspinova, L1
Jahnova, H1
Igarashi, T1
Wakida, N1
Tuyen, DG1
Adachi, M1
Miyoshi, T1
Nonoguchi, H1
Oka, T1
Ueda, O1
Tazawa, M2
Kurihara, S1
Yoneta, Y1
Shimada, H1
Kikuchi, Y1
Endou, H2
Otagiri, M1
Tomita, K1
Kitamura, K1
Enomoto, A1
Ohtsuka, Y1
Zaitsu, M1
Isomura, N1
Sato, T1
Hamasaki, Y1
Kitamura, T1
Homma, Y1
Nishimura, Y1
Chatys-Górska, L1
Zwolińska, D1
Prusek, W1
Stapleton, FB1
Nash, DA1
Sasaki, S2
Fujiwara, Y1
Takamitsu, Y1
Ueda, N1
Orita, Y1
Abe, H1
Matsuda, O1
Shiigai, T1
Aonuma, K1
Takeuchi, J1
Garty, BZ1
Nitzan, M1
Sperling, O5
Suzuki, T2
Kidoguchi, K1
Hayashi, A1
Hedley, JM1
Phillips, PJ1
Murakami, T1
Kawakami, H1
Fukuda, M1
Furukawa, S1
Gofrit, O1
Verstandig, AG1
Pode, D1
Fujieda, M1
Yokoyama, W1
Oishi, N1
Okada, T1
Kurashige, T1
Hamada, G1
Morooka, M1
Takeichi, S1
Minowa, S1
Yasaki, T1
Yim, JJ1
Oh, KH1
Chin, H1
Ahn, C1
Kim, SH1
Han, JS1
Kim, S1
Lee, JS1
Asami, T1
Kurihara, I1
Soma, J1
Sato, H1
Ikarashi, T1
Tsunoda, K1
Miura, R1
Sato, M1
Furuyama, T1
Ito, S1
Saito, T1
Gadomska-Prokop, K1
Konopielko, Z1
Takeda, Y1
Fujimoto, T1
Uyama, H1
Shiiki, H1
Yamano, S1
Kanauchi, M1
Yabuta, M1
Dohi, K1
Savi, M1
de Vries, A3
Benjamin, D2
Weinberg, A1
Pinkhas, J2
Weinberger, A2
Akaoka, I2
Nishizawa, T2
Yano, E2
Kamtani, N1
Nishida, Y2
Rieselbach, RE1
Steele, TH1
Boer, P1
Takeuchi, A1
Zawadzki, J1
Januszewicz, P1
Gafter, U1
Zuta, A1
Frydman, M1
Lewinski, UH1
Levi, J1
Larrañaga, JR1
Ferrón Vidan, F1
Pousa Estévez, L1
Atanes García, C1
Mardomingo Varela, P1
Passwell, J1
Zipperkowski, L1
Katznelson, D1
Szeinberg, A1
Crispin, M1
Pollak, S1
Goodman, R1
Bat-Miriam, M1
Cohen, BE1
Greene, ML1
Marcus, R1
Aurbach, GD1
Kazam, ES1
Seegmiller, JE1
Morris, RC1
McSherry, E1
Sebastian, A1

Clinical Trials (1)

Trial Overview

TrialPhaseEnrollmentStudy TypeStart DateStatus
Losartan and Uric Acid Metabolism in Children With Proteinuric Nephropathies: a Cross-over Randomized Clinical Trail[NCT05402397]Phase 440 participants (Anticipated)Interventional2022-07-01Recruiting
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Reviews

11 reviews available for uric acid and Kidney Tubular Transport, Inborn Error

ArticleYear
Renal hypouricemia in a recipient of living-donor kidney transplantation: a case report and literature review.
    CEN case reports, 2022, Volume: 11, Issue:2

    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.
    Journal of nephrology, 2023, Volume: 36, Issue:3

    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.
    Journal of nephrology, 2023, Volume: 36, Issue:3

    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.
    Journal of nephrology, 2023, Volume: 36, Issue:3

    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.
    Journal of nephrology, 2023, Volume: 36, Issue:3

    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.
    Journal of nephrology, 2023, Volume: 36, Issue:3

    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.
    Journal of nephrology, 2023, Volume: 36, Issue:3

    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.
    Journal of nephrology, 2023, Volume: 36, Issue:3

    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.
    Journal of nephrology, 2023, Volume: 36, Issue:3

    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.
    Journal of nephrology, 2023, Volume: 36, Issue:3

    Topics: Acute Kidney Injury; Humans; Renal Tubular Transport, Inborn Errors; Uric Acid; Urinary Calculi

2023
Renal effects of uric acid: hyperuricemia and hypouricemia.
    The Korean journal of internal medicine, 2020, Volume: 35, Issue:6

    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].
    Nihon yakurigaku zasshi. Folia pharmacologica Japonica, 2010, Volume: 136, Issue:6

    Topics: Adipokines; Benzbromarone; Cardiovascular Diseases; Hyperuricemia; Kidney; Organic Anion Transporter

2010
Hypouricemia and tubular transport of uric acid.
    Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia, 2011, Volume: 31, Issue:1

    Topics: Absorption; Biological Transport; Diabetes Complications; Diagnosis, Differential; Fluid Therapy; Gl

2011
Genetic disorders resulting in hyper- or hypouricemia.
    Advances in chronic kidney disease, 2012, Volume: 19, Issue:6

    Topics: Gout; Humans; Hyperuricemia; Renal Insufficiency, Chronic; Renal Tubular Transport, Inborn Errors; U

2012
[Water electrolyte imbalance associated with kidney tubular transport inborn error].
    Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine, 2003, May-10, Volume: 92, Issue:5

    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.
    Clinical and experimental nephrology, 2005, Volume: 9, Issue:3

    Topics: Acute Kidney Injury; Animals; Carnitine; Carrier Proteins; Free Radical Scavengers; Humans; Kidney F

2005
[Hereditary renal hypouricemia].
    Ryoikibetsu shokogun shirizu, 1998, Issue:19 Pt 2

    Topics: Biomarkers; Creatinine; Diagnosis, Differential; Humans; Kidney Tubules, Proximal; Prognosis; Renal

1998
[Genetic bases of metabolic tubular nephropathies].
    Minerva medica, 1979, Oct-13, Volume: 70, Issue:44

    Topics: Acidosis, Renal Tubular; Amino Acids; Bartter Syndrome; Cystinuria; Diabetes Insipidus; Fanconi Synd

1979
[Disorders of tubular transport of uric acid leading to hyperuricemia].
    Polskie Archiwum Medycyny Wewnetrznej, 1992, Volume: 88, Issue:1

    Topics: Adult; Child; Circadian Rhythm; Female; Glomerular Filtration Rate; Humans; Hypertension, Renal; Kid

1992

Other Studies

64 other studies available for uric acid and Kidney Tubular Transport, Inborn Error

ArticleYear
Clinical significance of hypouricemia in children and adolescents.
    Pediatric nephrology (Berlin, Germany), 2023, Volume: 38, Issue:9

    Topics: Acidosis, Renal Tubular; Adolescent; Azotemia; Child; Humans; Metabolism, Inborn Errors; Renal Tubul

2023
New
    Genes, 2023, 09-20, Volume: 14, Issue:9

    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.
    The Journal of clinical endocrinology and metabolism, 2020, 01-01, Volume: 105, Issue:1

    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.
    BMC nephrology, 2019, 11-26, Volume: 20, Issue:1

    Topics: Acute Kidney Injury; Adult; Diet Therapy; Exercise; Fluid Therapy; Glucose Transport Proteins, Facil

2019
Modified forearm ischemic test in hypouricemic patients.
    Nucleosides, nucleotides & nucleic acids, 2020, Volume: 39, Issue:10-12

    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.
    BMC medical genetics, 2020, 05-06, Volume: 21, Issue:1

    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.
    BMC nephrology, 2020, 07-16, Volume: 21, Issue:1

    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.
    PloS one, 2017, Volume: 12, Issue:4

    Topics: Adult; Cross-Sectional Studies; Female; Hospitals; Humans; Japan; Kidney Diseases; Male; Middle Aged

2017
Uric acid and cognitive decline: a double-edge sword?
    Current opinion in rheumatology, 2018, Volume: 30, Issue:2

    Topics: Cognitive Dysfunction; Cross-Sectional Studies; Dementia; Gout; Humans; Hyperuricemia; Oxidative Str

2018
Hypouricemia and hyperuricosuria in a pubescent girl: Answers.
    Pediatric nephrology (Berlin, Germany), 2018, Volume: 33, Issue:12

    Topics: Acute Kidney Injury; Allopurinol; Antioxidants; Child; Cystinosis; Diagnosis, Differential; Fanconi

2018
Hereditary xanthinuria is not so rare disorder of purine metabolism.
    Nucleosides, nucleotides & nucleic acids, 2018, Volume: 37, Issue:6

    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.
    BMC medical genetics, 2018, 08-10, Volume: 19, Issue:1

    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.
    Nephrology (Carlton, Vic.), 2018, Volume: 23, Issue:8

    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.
    American journal of nephrology, 2013, Volume: 38, Issue:4

    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.
    BMC medical genetics, 2014, Jan-07, Volume: 15

    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.
    Pediatrics in review, 2014, Volume: 35, Issue:3

    Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Anemia; Anti-Inflammatory Agents; Confusion; Congeni

2014
Purine disorders with hypouricemia.
    Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki), 2014, Volume: 35, Issue:1

    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.
    Circulation journal : official journal of the Japanese Circulation Society, 2015, Volume: 79, Issue:5

    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.
    Circulation journal : official journal of the Japanese Circulation Society, 2015, Volume: 79, Issue:5

    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.
    American journal of nephrology, 2015, Volume: 41, Issue:2

    Topics: Age Factors; Aged; Cross-Sectional Studies; Diabetes Mellitus; Female; Glomerular Filtration Rate; H

2015
[Disturbance of uric acid metabolism].
    Nihon Jinzo Gakkai shi, 2015, Volume: 57, Issue:4

    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.
    The American journal of the medical sciences, 2015, Volume: 350, Issue:4

    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.
    Clinical and experimental nephrology, 2016, Volume: 20, Issue:6

    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.
    Nucleosides, nucleotides & nucleic acids, 2016, Volume: 35, Issue:10-12

    Topics: Acute Kidney Injury; Allopurinol; Animals; Creatinine; Disease Models, Animal; Gout Suppressants; Ma

2016
Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia.
    Molecular genetics and metabolism, 2011, Volume: 102, Issue:4

    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.
    Nagoya journal of medical science, 2011, Volume: 73, Issue:1-2

    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.
    Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 2012, Volume: 27, Issue:3

    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.
    Clinical and experimental nephrology, 2012, Volume: 16, Issue:2

    Topics: Acute Kidney Injury; Adolescent; Exercise; Humans; Male; Mutation; Organic Anion Transporters; Organ

2012
Pathogenic GLUT9 mutations causing renal hypouricemia type 2 (RHUC2).
    Nucleosides, nucleotides & nucleic acids, 2011, Volume: 30, Issue:12

    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.
    Pediatric nephrology (Berlin, Germany), 2012, Volume: 27, Issue:8

    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.
    European journal of pharmacology, 2012, Sep-05, Volume: 690, Issue:1-3

    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.
    Clinica chimica acta; international journal of clinical chemistry, 2013, Jan-16, Volume: 415

    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.
    European journal of human genetics : EJHG, 2013, Volume: 21, Issue:10

    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.
    The Journal of clinical endocrinology and metabolism, 2005, Volume: 90, Issue:4

    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.
    Pediatrics international : official journal of the Japan Pediatric Society, 2007, Volume: 49, Issue:2

    Topics: Acute Kidney Injury; Adolescent; Child; Exercise; Female; Heterozygote; Homozygote; Humans; Male; Mi

2007
[A case of familial renal hypouricemia associated with bladder cancer].
    Nihon Hinyokika Gakkai zasshi. The japanese journal of urology, 1984, Volume: 75, Issue:2

    Topics: Aged; Benzbromarone; Carcinoma, Transitional Cell; Humans; Male; Probenecid; Pyrazinamide; Renal Tub

1984
[Biochemical and clinical renal symptoms in Lowe syndrome].
    Wiadomosci lekarskie (Warsaw, Poland : 1960), 1980, Sep-15, Volume: 33, Issue:18

    Topics: Acidosis, Renal Tubular; Amino Acids; Bicarbonates; Carbon Dioxide; Child; Creatinine; Electrolytes;

1980
A screening test for hyperuricosuria.
    The Journal of pediatrics, 1983, Volume: 102, Issue:1

    Topics: Adolescent; Child; Child, Preschool; Glomerular Filtration Rate; Humans; Infant; Purine-Pyrimidine M

1983
Congenital hypouricemia.
    Ryumachi. [Rheumatism], 1980, Volume: 20, Issue:2

    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.
    Clinical nephrology, 1980, Volume: 13, Issue:1

    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.
    Nephron, 1982, Volume: 30, Issue:2

    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.
    Israel journal of medical sciences, 1981, Volume: 17, Issue:4

    Topics: Child; Humans; Male; Pedigree; Renal Tubular Transport, Inborn Errors; Uric Acid

1981
Genetic heterogeneity of familial hypouricemia due to isolated renal tubular defect.
    Jinrui idengaku zasshi. The Japanese journal of human genetics, 1981, Volume: 26, Issue:3

    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.
    Journal of clinical pathology, 1980, Volume: 33, Issue:10

    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?
    Clinical nephrology, 1995, Volume: 43, Issue:3

    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.
    The Journal of urology, 1993, Volume: 149, Issue:6

    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.
    Acta paediatrica Japonica : Overseas edition, 1995, Volume: 37, Issue:5

    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].
    Nihon Jinzo Gakkai shi, 1996, Volume: 38, Issue:9

    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.
    Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 1998, Volume: 13, Issue:4

    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.
    Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 2000, Volume: 15, Issue:1

    Topics: Acute Kidney Injury; Adult; Benzbromarone; Exercise; Humans; Male; Pyrazinamide; Renal Tubular Trans

2000
[Uric acid metabolism in children with hyperuricosuria].
    Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego, 2000, Volume: 8, Issue:46

    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].
    Nihon Jinzo Gakkai shi, 2001, Volume: 43, Issue:5

    Topics: Acute Kidney Injury; Adult; Exercise; Humans; Male; Renal Tubular Transport, Inborn Errors; Uric Aci

2001
Inborn hypouricemia due to isolated renal tubular defect.
    Biomedicine / [publiee pour l'A.A.I.C.I.G.], 1979, Volume: 30, Issue:2

    Topics: Adult; Calcium; Chromosome Aberrations; Chromosome Disorders; Female; Glomerular Filtration Rate; Hu

1979
Familial hypouricemia due to isolated renal tubular abnormality.
    Biomedicine / [publiee pour l'A.A.I.C.I.G.], 1978, Volume: 29, Issue:2

    Topics: Chromosome Aberrations; Chromosome Disorders; Genes, Recessive; Humans; Male; Middle Aged; Probeneci

1978
Familial renal hypouricemia due to isolated tubular defect.
    Advances in experimental medicine and biology, 1977, Volume: 76B

    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.
    The Journal of rheumatology, 1977,Spring, Volume: 4, Issue:1

    Topics: Adult; Humans; Male; Middle Aged; Pedigree; Probenecid; Pyrazinamide; Renal Tubular Transport, Inbor

1977
Intrinsic renal disease leading to abnormal urate excretion.
    Nephron, 1975, Volume: 14, Issue:1

    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.
    Biomedicine / [publiee pour l'A.A.I.C.I.G.], 1975, Jun-10, Volume: 23, Issue:5

    Topics: Biological Transport; Erythrocytes; Humans; Hypoxanthines; Intestinal Absorption; Phenotype; Probene

1975
Familial hypouricaemia due to renal tubular defect of urate transport.
    Annals of clinical research, 1975, Volume: 7, Issue:5

    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.
    Mineral and electrolyte metabolism, 1989, Volume: 15, Issue:5

    Topics: Creatinine; Female; Humans; Kidney; Middle Aged; Probenecid; Pyrazinamide; Renal Tubular Transport,

1989
[Hypouricemia caused by an isolated tubular defect. Apropos of a case].
    Revista clinica espanola, 1985, Volume: 176, Issue:2

    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.
    The Journal of pediatrics, 1973, Volume: 82, Issue:3

    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.
    The American journal of medicine, 1972, Volume: 53, Issue:3

    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.
    Proceedings of the National Academy of Sciences of the United States of America, 1971, Volume: 68, Issue:1

    Topics: Adult; Bicarbonates; Calcium; Carbohydrate Metabolism, Inborn Errors; Feedback; Female; Fructose; Hu

1971