Cargando…

A Case of Exercise-induced Acute Renal Failure with G774A Mutation in SCL22A12 Causing Renal Hypouricemia

Acute renal failure with severe loin pain which develops after anaerobic exercise is rare. One of predisposing factors of exercise-induced acute renal failure is renal hypouricemia. Idiopathic renal hypouricemia is a genetic disorder characterized by hypouricemia with abnormally high renal tubular u...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kim, Yong Hyun, Cho, Jong Tae
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Korean Academy of Medical Sciences 2011
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3172664/ https://www.ncbi.nlm.nih.gov/pubmed/21935282 http://dx.doi.org/10.3346/jkms.2011.26.9.1238

Ejemplares similares

A Case Report of Familial Renal Hypouricemia Confirmed by Genotyping of SLC22A12, and a Literature Review
por: Kim, Hyung Oh, et al.
Publicado: (2015)

Renal hypouricemia as the cause of exercise-induced acute kidney injury
por: Lee, Haeun, et al.
Publicado: (2023)

Renal effects of uric acid: hyperuricemia and hypouricemia
por: Park, Jung Hwan, et al.
Publicado: (2020)

Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review
por: Zhou, Zhaowei, et al.
Publicado: (2018)

Renal Hypouricemia with Exercise Induced Acute Kidney Injury-A Case Report
por: Gundlapalli, Srikanth, et al.
Publicado: (2021)

Transplantation of a kidney with a heterozygous mutation in the SLC22A12 (URAT1) gene causing renal hypouricemia: a case report
por: Tsuji, Kiyokazu, et al.
Publicado: (2020)

A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia
por: Vidanapathirana, Dinesha Maduri, et al.
Publicado: (2018)

Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes
por: Cha, Do Hyeon, et al.
Publicado: (2019)

Hypothetical Mechanism of Exercise-Induced Acute Kidney Injury Associated with Renal Hypouricemia
por: Hosoyamada, Makoto
Publicado: (2021)

Exercise-Induced Acute Kidney Injury in a Police Officer with Hereditary Renal Hypouricemia
por: Shimizu, Yoshio, et al.
Publicado: (2019)

Exercise‐induced acute renal failure in a trainee cyclist without hypouricemia: Successful athletic career post‐treatment
por: Shimizu, Yoko, et al.
Publicado: (2017)

A Case of Acute Kidney Injury in a Patient with Renal Hypouricemia without Intense Exercise
por: Aomura, Daiki, et al.
Publicado: (2020)

Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity
por: Jeannin, Guido, et al.
Publicado: (2014)

Characterization of Urate Metabolism and Complications of Patients with Renal Hypouricemia
por: Miyazaki, Satoshi, et al.
Publicado: (2022)

Idiopathic renal hypouricemia: A case report and literature review
por: Wang, Cuiyu, et al.
Publicado: (2019)

New SLC22A12 (URAT1) Variant Associated with Renal Hypouricemia Identified by Whole-Exome Sequencing Analysis and Bioinformatics Predictions
por: Perdomo-Ramírez, Ana, et al.
Publicado: (2023)

Clinical practice guideline for renal hypouricemia (1st edition)
por: Nakayama, Akiyoshi, et al.
Publicado: (2019)

Genetic Basis of the Epidemiological Features and Clinical Significance of Renal Hypouricemia
por: Hakoda, Masayuki, et al.
Publicado: (2022)

Acute Renal Failure with Severe Loin Pain and Patchy Renal Vasoconstriction in a Patient without Hypouricemia, Provoked by Epileptic Seizure
por: Maekawa, Michitaka, et al.
Publicado: (2017)

Amplicon targeted resequencing for SLC2A9 and SLC22A12 identified novel mutations in hypouricemia subjects
por: Zhou, Zhaowei, et al.
Publicado: (2019)

Renal hypouricemia is an ominous sign in patients with severe acute respiratory syndrome
por: Wu, Vin-Cent, et al.
Publicado: (2005)

Mutation in the SLC2A9 Gene: A New Family with Familial Renal Hypouricemia Type 2
por: Maalouli, Christian, et al.
Publicado: (2021)

Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population
por: Stiburkova, Blanka, et al.
Publicado: (2021)

Recurrent exercise-induced acute kidney injury by idiopathic renal hypouricemia with a novel mutation in the SLC2A9 gene and literature review
por: Shen, Huijun, et al.
Publicado: (2014)

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
por: Furuto, Yoshitaka, et al.
Publicado: (2019)

Analysis of Purine Metabolism to Elucidate the Pathogenesis of Acute Kidney Injury in Renal Hypouricemia
por: Miyamoto, Daisuke, et al.
Publicado: (2022)

A Proposal for Practical Diagnosis of Renal Hypouricemia: Evidenced from Genetic Studies of Nonfunctional Variants of URAT1/SLC22A12 among 30,685 Japanese Individuals
por: Kawamura, Yusuke, et al.
Publicado: (2021)

Hypouricemia and Urate Transporters
por: Otani, Naoyuki, et al.
Publicado: (2022)

Scleroderma Renal Crisis in a Systemic Sclerosis With Anti-PM/Scl Antibodies
por: Jacquier, Marine, et al.
Publicado: (2019)

Possible Use of Non-purine Selective Xanthine Oxidoreductase Inhibitors for Prevention of Exercise-induced Acute Kidney Injury Associated with Renal Hypouricemia
por: Aizawa, Chiharu, et al.
Publicado: (2023)

Characterization of a Compound Heterozygous SLC2A9 Mutation That Causes Hypouricemia
por: Yoon, Jaeho, et al.
Publicado: (2021)

Prevalence and possible causes of hypouricemia at a tertiary care hospital
por: Son, Chang-Nam, et al.
Publicado: (2016)

Clinical features suggesting renal hypouricemia as the cause of acute kidney injury: a case report and review of the literature
por: Mazzierli, Tommaso, et al.
Publicado: (2022)

Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2
por: Toyoda, Yu, et al.
Publicado: (2023)

Dysuricemia—A New Concept Encompassing Hyperuricemia and Hypouricemia
por: Otani, Naoyuki, et al.
Publicado: (2023)

Deciphering genetic signatures by whole exome sequencing in a case of co-prevalence of severe renal hypouricemia and diabetes with impaired insulin secretion
por: Sekiya, Motohiro, et al.
Publicado: (2020)

Management of a pregnant woman with hypouricemia: a case report
por: Kumasawa, Keiichi, et al.
Publicado: (2019)

Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M)
por: Perdomo-Ramirez, Ana, et al.
Publicado: (2023)

Building 774: open for business
por: CERN Bulletin
Publicado: (2015)

Hypouricemia in the emergency department: A retrospective, single‐center study
por: Makinouchi, Ryuichiro, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_h27b1llh0dlkksc9pf5hpdogfc