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.
引用
收藏
页数:7
相关论文
共 50 条
  • [41] Partial nephrectomy of a horseshoe kidney associated with renal cell carcinoma and ureteral stone: A clinical case report
    Khayyamfar, Feraidoon
    Dalil, Davood
    Khayyamfar, Amirmahdi
    CLINICAL CASE REPORTS, 2023, 11 (11):
  • [42] Navigating complexity: a case report of chronic kidney disease with renal stone unravelling a rare metabolic disorder
    Green, Darren
    Eltahan, Alshymaa
    Lewis, David
    Rana, Seema
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2024, 39
  • [43] Navigating complexity: a case report of chronic kidney disease with renal stone unravelling a rare metabolic disorder
    Green, Darren
    Eltahan, Alshymaa
    Lewis, David
    Rana, Seema
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2024, 39 : I1974 - I1975
  • [44] MILK-OF-CALCIUM RENAL STONE - CASE REPORT
    WALKER, WH
    PEARSON, RE
    JOHNSON, NR
    JOURNAL OF UROLOGY, 1960, 84 (04): : 517 - 520
  • [45] MILK-OF-CALCIUM RENAL STONE - REPORT OF A CASE
    MAURER, RM
    WILDIN, RE
    RADIOLOGY, 1965, 84 (02) : 274 - &
  • [47] Clinical features suggesting renal hypouricemia as the cause of acute kidney injury: a case report and review of the literature (vol 36, pg 651, 2023)
    Mazzierli, Tommaso
    Cirillo, Luigi
    Palazzo, Viviana
    Ravaglia, Fiammetta
    Becherucci, Francesca
    JOURNAL OF NEPHROLOGY, 2024, 37 (02) : 539 - 539
  • [48] FAMILIAL HYPOURICEMIA - A PEDIATRIC CASE-REPORT
    BOUISSOU, F
    ROSTIN, M
    BARTHE, P
    INTERNATIONAL JOURNAL OF PEDIATRIC NEPHROLOGY, 1980, 1 (02): : 130 - 130
  • [49] Management of a pregnant woman with hypouricemia: a case report
    Kumasawa, Keiichi
    Nakayama, Toshio
    Hashimoto, Ayako
    Kubota, Kaori
    Takahashi, Yuko
    Furuya, Hitomi
    Shitara, Rieko
    Seyama, Takahiro
    Tsuruga, Tetsushi
    Iriyama, Takayuki
    Nagamatsu, Takeshi
    Osuga, Yutaka
    Fujii, Tomoyuki
    OXFORD MEDICAL CASE REPORTS, 2019, (05): : 219 - 221
  • [50] A staghorn kidney stone or extraskeletal osteosarcoma of the kidney? A case report and literature review
    Torghabeh, Ali Emadi
    Gharib, Masoumeh
    Anaraki, Siavash Zahed
    Rabiei, Parisa
    RARE TUMORS, 2023, 15