• Jinna Yuan, Ke Huang, Wei Wu, Li Zhang, and Guanping Dong.
• Endocrinology Department, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
• Medicine (Baltimore). 2019 Jul 1; 98 (30): e16504.

RationaleAutosomal 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 ConcernsA 2-month, 24-day-old Chinese girl presenting with vomiting and diarrhea.DiagnosisdRTA 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.InterventionsPatient was treated with potassium citrate.OutcomesThe patient has shown normal pH and potassium levels.LessonsThis 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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