Key result
Whole exome sequencing identified a novel biallelic mutation in the KCNJ16 gene in a 20-year-old Indian male presenting with a pure renal phenotype of distal renal tubular acidosis.
Case Report (n=1)
This case report identifies a novel biallelic mutation in the KCNJ16 gene causing a pure renal phenotype of hypokalemic periodic paralysis and metabolic acidosis without cardiac manifestations.
Answers are grounded in this paper and cite their sources.
May prompt KCNJ16 testing in unexplained distal RTA; extends mutation spectrum but leaves open validation in larger cohorts.
A 20-year-old male presented with fever and rapidly progressive muscle weakness. He had hypokalemia and metabolic acidosis, suggesting renal tubular acidosis (RTA). Further investigation revealed distal RTA with preserved acidification. A channelopathy was suspected. Whole exome sequencing identified a novel biallelic mutation in the KCNJ16 gene, which encodes the Kir5.1 protein. This is the first reported case of an Indian adult with biallelic KCNJ16 mutations presenting as pure renal phenotype without sensory neural hearing loss or cardiac manifestation.
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Prasad et al. (2024) conducted a case report in Recurrent Hypokalemic Periodic Paralysis with Metabolic Acidosis and Hypokalemia (n=1). Biallelic KCNJ16 mutation was evaluated on Identification of genetic mutation. Whole exome sequencing identified a novel biallelic mutation in the KCNJ16 gene in a 20-year-old Indian male presenting with a pure renal phenotype of distal renal tubular acidosis.
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