A case report and literature review of primary distal renal tubular acidosis resulting from a mutation in <i>ATP6V0A4</i>.

ABSTRACT: Primary renal tubular acidosis is an inherited disorder with heterogeneous clinical presentations, including chronic metabolic acidosis, electrolyte imbalances (e.g., hypokalemia), skeletal abnormalities, and urinary tract symptoms. We report a noteworthy case of a 7-month-old infant who presented with recurrent vomiting and hypokalemia. Laboratory investigations confirmed hypokalemia, metabolic acidosis with hyperchloremia, and inappropriately alkaline urine, leading to a strong suspicion of primary renal tubular acidosis. Genetic analysis by whole-exome sequencing identified a novel homozygous missense mutation (c.1418C > T) in the ATP6V0A4 gene on chromosome 7 in the proband. This specific variant is exceptionally rare and is associated with a severe, atypical phenotype manifesti

SUBMITTER: Chang C 

PROVIDER: S-EPMC12696175 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature