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.

Original languageEnglish
Pages (from-to)1566-1569
Number of pages4
JournalEuropean Journal of Human Genetics
Issue number10
StatePublished - Oct 2021


Dive into the research topics of 'Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis'. Together they form a unique fingerprint.

Cite this