Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis.
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ABSTRACT: KCNJ16 encodes Kir5.1 and acts in combination with Kir4.1, encoded by KCNJ10, to form an inwardly rectifying K+ channel expressed at the basolateral membrane of epithelial cells in the distal nephron. This Kir4.1/Kir5.1 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.
SUBMITTER: Webb BD
PROVIDER: S-EPMC8484552 | biostudies-literature |
REPOSITORIES: biostudies-literature
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