A novel mutation in a patient with familial renal hypouricemia type 2

Kaynar, Kubra; Güvercin, Beyhan; Şahin, Mustafa; Turan, Nilay; Açíkyürek, Ferhat

doi:10.1016/j.nefro.2021.07.006

Cited by 2 publications

(2 citation statements)

References 7 publications

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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: 69%

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: 69%

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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“…Specifically, renal hypouricemia is a rare hereditary disease characterized by impaired uric acid transport, insufficient reabsorption, and accelerated secretion. Renal hypouricemia (RHUC) is now classified into two groups: RHUC1 [OMIM #220150], which results from a mutation in the SLC22A12 [OMIM *607096], encoding for renal urate transporter 1 (URAT1), and RHUC2 [OMIM #612076], which results from a mutation in the SLC2A9 [OMIM *606142], encoding for glucose transporter (GLUT9) ( 2 ). URAT1 and GLUT9 are expressed in the apical and basal membranes of the renal cortical proximal tubule, respectively.…”

Section: Introductionmentioning

confidence: 99%

Renal hypouricemia complicated with kidney stone: a case report

Yang,

Mu,

et al. 2024

Front. Med.

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Renal hypouricemia (RHUC) is a rare autosomal recessive disorder characterized by impaired renal tubular uric acid reabsorption and abnormally high uric acid clearance, which may be manifested by reduced serum uric acid (SUA) levels and elevated fractional excretion of uric acid (FE-UA >10%). Most RHUC patients are often asymptomatic or have accidentally decreased SUA levels during health examinations, while others develop kidney stones and exercise-induced acute kidney injury (EIAKI). We now report a case of RHUC complicated with an asymptomatic kidney stone, and we identified a heterozygous mutation of c.269G > A (p.R90H) and a novel heterozygous mutation of c.674C > G (p.T225R) in the SLC22A12 gene in the patient through whole exon gene detection (NGS method). This case offers valuable insights into the mechanisms, clinical management, and prognosis of RHUC and its associated complications.

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A novel mutation in a patient with familial renal hypouricemia type 2

Cited by 2 publications

References 7 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

Renal hypouricemia complicated with kidney stone: a case report

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