Genotype and Phenotype of Renal Hypouricemia: A Single-Center Study from China.

Autor: Mou L; Department of Nephrology, Zhejiang University School of Medicine Second Affiliated Hospital, Jiefang Rd 88, Hangzhou, 310009, Zhejiang, China., Zhu L; Department of Nephrology, Zhejiang University School of Medicine Second Affiliated Hospital, Jiefang Rd 88, Hangzhou, 310009, Zhejiang, China. b1093@zju.edu.cn., Chen X; Division of Nephrology, Huashan Hospital Fudan University, Shanghai, China., Hu Y; Department of Nephrology, Zhejiang University School of Medicine Second Affiliated Hospital, Jiefang Rd 88, Hangzhou, 310009, Zhejiang, China., Zhu H; Department of Nephrology, Zhejiang University School of Medicine Second Affiliated Hospital Jiande Branch, Jiande, Zhejiang, China., Xu Y; Kidney Disease Center, Institute of Nephrology, Key Laboratory of Kidney Disease Prevention and Control Technology, Zhejiang University, School of Medicine First Affiliated Hospital, Hangzhou, Zhejiang, China.
Jazyk: angličtina
Zdroj: Molecular diagnosis & therapy [Mol Diagn Ther] 2024 Jan; Vol. 28 (1), pp. 87-99. Date of Electronic Publication: 2023 Nov 16.
DOI: 10.1007/s40291-023-00683-w
Abstrakt: Background: Renal hypouricemia (RHUC), a rare inherited disorder characterized by impaired uric acid reabsorption and subsequent profound hypouricemia, occurs mainly due to variants in SLC22A12 or SLC2A9. Only anecdotal cases and one small-scale RHUC screening study have been reported in the Chinese population.
Methods: A total of 19 patients with RHUC from 17 unrelated families were recruited from our center. The medical history, clinical manifestations, biochemical exam, and clinical outcomes were collected. Next-generation sequencing-based targeted gene sequencing or whole exon sequencing was performed.
Results: A total of 22 variants in SLC22A12 or SLC2A9 were found in 19 patients. The variant c.944G>A (p.W315X) in SLC2A9 was identified in three patients. Three variants c.165C>A (p.D55E), c.1549_1555delGAGACCC (p.E517Rfs*17), and c.1483T>C (p.W495R) in SLC22A12 and three variants c.1215+1G>A (splicing variant), c.643A>C (p.T215P), and c.227C>A (p.S76X) in SLC2A9 were novel. A proportion of 10 out of 19 patients presented with exercise-induced acute kidney injury (EIAKI). The renal outcome was favorable. Five patients had nephrolithiasis, in whom three had hypercalciuria.
Conclusion: The current study reported six novel variants in SLC22A12 and SLC2A9 genes of Chinese patients with RHUC. The variant c.944G>A (p.W315X) in SLC2A9 may be common in Chinese patients. EIAKI is the main clinical phenotype associated with RHUC in our cohort, with a favorable outcome. Hypercalciuria presented in some RHUC patients is a new finding.
(© 2023. The Author(s), under exclusive licence to Springer Nature Switzerland AG.)
Databáze: MEDLINE
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