Renal hypouricemia complicated with kidney stone: a case report
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%)....
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2024-02-01
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| Series: | Frontiers in Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fmed.2024.1218232/full |
| _version_ | 1797322496783941632 |
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| author | Yuhao Yang Xingyu Mu Zengxiang Wu Zhenmei An Shuangqing Li |
| author_facet | Yuhao Yang Xingyu Mu Zengxiang Wu Zhenmei An Shuangqing Li |
| author_sort | Yuhao Yang |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-08T05:15:08Z |
| format | Article |
| id | doaj.art-75ebf1d9ec4243118b8023deeb224438 |
| institution | Directory Open Access Journal |
| issn | 2296-858X |
| language | English |
| last_indexed | 2024-03-08T05:15:08Z |
| publishDate | 2024-02-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Medicine |
| spelling | doaj.art-75ebf1d9ec4243118b8023deeb2244382024-02-07T04:22:25ZengFrontiers Media S.A.Frontiers in Medicine2296-858X2024-02-011110.3389/fmed.2024.12182321218232Renal hypouricemia complicated with kidney stone: a case reportYuhao Yang0Xingyu Mu1Zengxiang Wu2Zhenmei An3Shuangqing Li4General Practice Ward/International Medical Center Ward, General Practice Medical Center, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaGeneral Practice Ward/International Medical Center Ward, General Practice Medical Center, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaGeneral Practice Ward/International Medical Center Ward, General Practice Medical Center, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaDepartment of Endocrinology and Metabolism, West China Hospital, Sichuan University, Chengdu, ChinaGeneral Practice Ward/International Medical Center Ward, General Practice Medical Center, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaRenal 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.https://www.frontiersin.org/articles/10.3389/fmed.2024.1218232/fullrenal hypouricemiaSLC22A12mutationasymptomatic kidney stonesnext-generation sequencing |
| spellingShingle | Yuhao Yang Xingyu Mu Zengxiang Wu Zhenmei An Shuangqing Li Renal hypouricemia complicated with kidney stone: a case report Frontiers in Medicine renal hypouricemia SLC22A12 mutation asymptomatic kidney stones next-generation sequencing |
| title | Renal hypouricemia complicated with kidney stone: a case report |
| title_full | Renal hypouricemia complicated with kidney stone: a case report |
| title_fullStr | Renal hypouricemia complicated with kidney stone: a case report |
| title_full_unstemmed | Renal hypouricemia complicated with kidney stone: a case report |
| title_short | Renal hypouricemia complicated with kidney stone: a case report |
| title_sort | renal hypouricemia complicated with kidney stone a case report |
| topic | renal hypouricemia SLC22A12 mutation asymptomatic kidney stones next-generation sequencing |
| url | https://www.frontiersin.org/articles/10.3389/fmed.2024.1218232/full |
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