A novel homozygous deletion in ATP6V0A4 causes distal renal tubular acidosis: A case report.

RATIONALE

Autosomal recessive distal renal tubular acidosis (dRTA) is a rare condition, most cases of which are caused by genetic mutations. Several loss-of-function mutations in the ATP6V0A4 gene have been recently reported.

PATIENT CONCERNS

A 2-month, 24-day-old Chinese girl presenting with vomiting and diarrhea.

DIAGNOSIS

dRTA was established by metabolic acidosis and hypokalemia. Mutational analysis of the ATP6V0A4 gene revealed a homozygous deletion of exons 13 and 14. The father was found to have a heterozygous loss of both exons, whereas the mother was normal.

INTERVENTIONS

Patient was treated with potassium citrate.

OUTCOMES

The patient has shown normal pH and potassium levels.

LESSONS

This is the first case of a homozygous deletion in ATP6V0A4 reported in the literature. Although the initial auditory screening was normal in this case, this patient will nevertheless undergo long-term auditory testing.