title: Distal renal tubular acidosis with nerve deafness secondary to ATP6B1 gene mutation.
abstract: 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.
authors.forename: Parvathina Sriram
authors.initials: PS
authors.lastname: Naveen
authors.forename: Lokanatha
authors.initials: L
authors.lastname: Srikanth
authors.forename: Katari
authors.initials: K
authors.lastname: Venkatesh
authors.forename: Potukuchi Venkata Gurunadha Krishna
authors.initials: PV
authors.lastname: Sarma
authors.forename: Naga
authors.initials: N
authors.lastname: Sridhar
authors.forename: Chennu
authors.initials: C
authors.lastname: Krishnakishore
authors.forename: Yanala
authors.initials: Y
authors.lastname: Sandeep
authors.forename: Yadla
authors.initials: Y
authors.lastname: Manjusha
authors.affiliation: Department of Nephrology, Sri Venkateswara Institute of Medical Sciences, Sri Venkateswara University, Tirupati, India.
authors.forename: Vishnubhotla
authors.initials: V
authors.lastname: Sivakumar
mesh_terms: D000141:Acidosis, Renal Tubular / Q000235:genetics*; D000293:Adolescent; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D025262:Vacuolar Proton-Translocating ATPases / Q000235:genetics*
chemical_list: C509766:ATP6V1B1 protein, human; D025262:Vacuolar Proton-Translocating ATPases