Article
Novel compound heterozygous ATP6V0A4 mutations in an infant with distal renal tubular acidosis.
European journal of pediatrics - 1 Oct 2010
Saito Takashi, Hayashi Daisuke, Shibata Sawako, Jogamoto Mitsuto, Kamoda Tomohiro
Abstract excerpt
A Japanese infant presenting with vomiting, failure to thrive, metabolic acidosis, and hyperammonemia was finally diagnosed with autosomal recessive distal renal tubular acidosis (dRTA). Hyperchloremic metabolic acidosis, hypokalemia, a normal serum anion gap, a positive urine anion gap, nephrocalcinosis, and high urine pH despite systemic acidemia were consistent with the cardinal manifestations in dRTA....
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