ArticleFrontiers in pediatrics2025
A case report and literature review of primary distal renal tubular acidosis resulting from a mutation in
Article in Frontiers in pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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
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