Renal hypouricemia complicated with kidney stone: a case report

被引:0
|
作者
Yang, Yuhao [1 ]
Mu, Xingyu [1 ]
Wu, Zengxiang [1 ]
An, Zhenmei [2 ]
Li, Shuangqing [1 ]
机构
[1] Sichuan Univ, West China Hosp, Gen Practice Ward, Int Med Ctr Ward,Gen Practice Med Ctr, Chengdu, Sichuan, Peoples R China
[2] Sichuan Univ, West China Hosp, Dept Endocrinol & Metab, Chengdu, Peoples R China
关键词
renal hypouricemia; mutation; asymptomatic kidney stones; next-generation sequencing; ALLELIC VARIANTS; URAT1;
D O I
10.3389/fmed.2024.1218232
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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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页数:7
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