Distal renal tubular acidosis with nerve deafness secondary to Atp6b1 gene mutation

Abstract EN

Autosomal recessive distal renal tubular acidosis (dRTA) is associated with mutation in the ATP6B1 gene encoding the B1 subunit of H+-ATPase, one of the key membrane transporters for net acid excretion of α-intercalated cells of medullary collecting ducts.

Sensori-neural deafness frequently accompanies this type of dRTA.

We herewith describe a patient who had distinct features of dRTA with bilateral sensori-neural hearing loss and ATP6B1 mutation.

This is a rare entity.