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.
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| http://dx.doi.org/10.1097/MD.0000000000016504 | DOI Listing |
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