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Compound Heterozygous Loss of Allele Coding for KCNJ16 in an Adult Presenting as Recurrent Hypokalemic Periodic Paralysis with Metabolic Acidosis and Hypokalemia - A Case Report

Year: 2024

Type: article

Abstract: 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.

Source: Indian Journal of Nephrology

DOI: 10.25259/ijn_381_2024

Authors: M K Hari Prasad, Renju Binoy, Himanshu Sekhar Mahapatra, D Akshay

Institution: Atal Bihari Vajpayee Institute of Medical Sciences and Dr. Ram Manohar Lohia Hospital

Language: English

Topic: Ion channel regulation and function

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4403770072

FWCI: 0.118

Cites: 6

Cited by: 1

Related to: 10