A case of renal hypouricemia and a G774A gene mutation causing acute renal injury that was improved by hemodialysis

Hirashio, Shuma; Yamada, Kyoko; Naitô, Takayuki; Takao, Masaki

doi:10.1007/s13730-012-0007-4

Cited by 3 publications

(1 citation statement)

References 16 publications

(24 reference statements)

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“…Of note, uric acid in the acute phase of AKI is the norm in the majority of patients, likely due to the rise in muscle release and the decline in kidney function [ 7 ]. The estimated glomerular filtration rate (eGFR) and uric acid frequently show an opposite trend during the disease course, with eGFR increasing over time while uric acid, in the normal range at onset, becomes undetectable [ 8 , 9 ], as can be observed in our patient (Fig. 2 ).…”

Section: Discussionsupporting

confidence: 67%

Clinical features suggesting renal hypouricemia as the cause of acute kidney injury: a case report and review of the literature

et al. 2022

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Hypouricemia is defined as a level of serum uric acid below 2 mg/dl. Renal hypouricemia is related to genetic defects of the uric acid tubular transporters urate transporter 1 and glucose transporter 9. Patients with renal hypouricemia can be completely asymptomatic or can develop uric acid kidney stones or acute kidney injury, particularly after exercise. Renal hypouricemia is especially challenging to diagnose in patients with acute kidney injury, due to the nonspecific clinical, hematochemical and histological features. No common features are reported in the literature that could help clinicians identify renal hypouricemia-acute kidney injury. Currently available guidelines on diagnosis and management of renal hypouricemia provide limited support in defining clues for the differential diagnosis of renal hypouricemia, which is usually suspected when hypouricemia is found in asymptomatic patients. In this paper we report a case of renal hypouricemia-acute kidney injury developing after exercise. We carried out a review of the literature spanning from the first clinical description of renal hypouricemia in 1974 until 2022. We selected a series of clinical features suggesting a diagnosis of renal hypouricemia-acute kidney injury. This may help clinicians to suspect renal hypouricemia in patients with acute kidney injury and to avoid invasive, costly and inconclusive exams such as renal biopsy. Considering the excellent outcome of the patients reported in the literature, we suggest a “wait-and-see” approach with supportive therapy and confirmation of the disease via genetic testing.

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Section: Discussionsupporting

confidence: 67%

Clinical features suggesting renal hypouricemia as the cause of acute kidney injury: a case report and review of the literature

et al. 2022

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Prevalence of inherited changes of uric acid levels in kidney dysfunction including stage 5 D and T: a systematic review

Amiri

Rahimi

2020

Ren Replace Ther

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Background/aims: Familial juvenile hereditary nephropathy (FJHN) is characterized by hyperuricemia due to severely impaired urinary excretion of urate. Hereditary renal hypouricemia is an inborn error of membrane transport. Because studies of inherited tubulopathy is rare, prevalence and diagnosis of these inherited tubulopathy increase with genetic testing.The aim of this study is to investigate prevalence of clinical features, biochemical profiles, and genetic analysis of patients with changes in serum uric acid levels in inherited tubulopathy. Main body: The paper has written based on searching PubMed and Google Scholar to identify potentially relevant articles or abstracts. In this retrospective study, a total 65 patients with changes of serum uric acid levels and kidney dysfunction were investigated. Clinical features, laboratory data at initial presentation, management, and outcomes were collected. Forty studies (65 participants) included in this review. The mean ± SD of age of study patients in inherited tubulointerstitial kidney disease was 25.29 ± 14.69 years. Mean ± SD age of patients at time of diagnosis in inherited renal hypouricemia was 18.83 ± 10.59 years. Correlation between exon region in mutated UMOD, SLC22A12, and SLC2A9 genes and serum uric acid levels were assessed and revealed significant statistical correlation between exon region of SLC2A9 mutation and serum uric acid levels. Prevalence of progression to endstage kidney disease in patients with inherited tubulointerstitial kidney disease and inherited renal hypouricemia were assessed 20% and 2.5%, respectively. There was nephrolithiasis in two patients (2/25, 8%) with inherited renal hypouricemia. Conclusions: This study shows that UMOD and SLC22A12 gene mutations were responsible for majority of autosomal-dominant tubulointerstitial kidney disease and inherited renal hypouricemia, respectively.

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Multiple Membrane Transporters and Some Immune Regulatory Genes are Major Genetic Factors to Gout

2018

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Gout is a common form of inflammatory arthritis caused by hyperuricemia and the deposition of Monosodium Urate (MSU) crystals. It is also considered as a complex disorder in which multiple genetic factors have been identified in association with its susceptibility and/or clinical outcomes. Major genes that were associated with gout include URAT1, GLUT9, OAT4, NPT1 (SLC17A1), NPT4 (SLC17A3), NPT5 (SLC17A4), MCT9, ABCG2, ABCC4, KCNQ1, PDZK1, NIPAL1, IL1β, IL-8, IL-12B, IL-23R, TNFA, MCP-1/CCL2, NLRP3, PPARGC1B, TLR4, CD14, CARD8, P2X7R, EGF, A1CF, HNF4G and TRIM46, LRP2, GKRP, ADRB3, ADH1B, ALDH2, COMT, MAOA, PRKG2, WDR1, ALPK1, CARMIL (LRRC16A), RFX3, BCAS3, CNIH-2, FAM35A and MYL2-CUX2. The proteins encoded by these genes mainly function in urate transport, inflammation, innate immunity and metabolism. Understanding the functions of gout-associated genes will provide important insights into future studies to explore the pathogenesis of gout, as well as to develop targeted therapies for gout.

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A case of renal hypouricemia and a G774A gene mutation causing acute renal injury that was improved by hemodialysis

Cited by 3 publications

References 16 publications

Clinical features suggesting renal hypouricemia as the cause of acute kidney injury: a case report and review of the literature

Clinical features suggesting renal hypouricemia as the cause of acute kidney injury: a case report and review of the literature

Prevalence of inherited changes of uric acid levels in kidney dysfunction including stage 5 D and T: a systematic review

Multiple Membrane Transporters and Some Immune Regulatory Genes are Major Genetic Factors to Gout

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