Novel KCNJ16 variants identified in a Chinese patient with hypokalemic metabolic acidosis

Novel KCNJ16 variants identified in a Chinese patient with hypokalemic metabolic acidosis

Abstract Background Biallelic pathogenic variants in the KCNJ16 gene result in hypokalemic tubulopathy and deafness (HKTD) (MIM #619406), which is a rare autosomal recessive disease characterized by hypokalemic tubulopathy with renal salt wasting, disturbed acid–base homeostasis, and sensorineural d...

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Bibliographic Details
Main Authors: Jianxiong Chen, Youqing Fu, Yan Sun, Xinlong Zhou, Qingming Wang, Cong Li, Haiming Yuan
Format: Article
Language:English
Published: Wiley 2023-11-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
cardiogenic shock
hypokalemic metabolic acidosis
hypokalemic tubulopathy and deafness
KCNJ16
Online Access:https://doi.org/10.1002/mgg3.2238

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