Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis

被引：17

作者：

Webb, Bryn D. ^{[1
,2
,3
]}

Hotchkiss, Hilary ^{[2
]}

Prasun, Pankaj ^{[1
]}

Gelb, Bruce D. ^{[1
,2
,3
]}

Satlin, Lisa ^{[2
,3
]}

机构：

[1] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA

[2] Icahn Sch Med Mt Sinai, Dept Pediat, New York, NY 10029 USA

[3] Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2021年 / 29卷 / 10期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1038/s41431-021-00883-0

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

KCNJ16 encodes K(ir)5.1 and acts in combination with K(ir)4.1, encoded by KCNJ10, to form an inwardly rectifying K+ channel expressed at the basolateral membrane of epithelial cells in the distal nephron. This K(ir)4.1/K(ir)5.1 channel is critical for controlling basolateral membrane potential and K+ recycling, the latter coupled to Na-K-ATPase activity, which determines renal Na+ handling. Previous work has shown that Kcnj16(-/-) mice and SSKcnj16-/- rats demonstrate hypokalemic, hyperchloremic metabolic acidosis. Here, we present the first report of a patient identified to have biallelic loss-of-function variants in KCNJ16 by whole exome sequencing who presented with chronic metabolic acidosis with exacerbations triggered by minor infections.

引用

页码：1566 / 1569

页数：4

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