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KCNJ16 encodes K5.1 and acts in combination with K4.1, encoded by KCNJ10, to form an inwardly rectifying K channel expressed at the basolateral membrane of epithelial cells in the distal nephron. This K4.1/K5.1 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 SS 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8484552 | PMC |
| http://dx.doi.org/10.1038/s41431-021-00883-0 | DOI Listing |
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