Author/Authors :
Naveen, Parvathina Sriram Sri Venkateswara University - Sri Venkateswara Institute of Medical Sciences - Department of Nephrology, India , Srikanth, Lokanatha Sri Venkateswara University - Sri Venkateswara Institute of Medical Sciences - Department of Biotechnology, India , Venkatesh, Katari Sri Venkateswara University - Sri Venkateswara Institute of Medical Sciences - Department of Biotechnology, India , Sarma, Potukuchi Venkata Gurunadha Krishna Sri Venkateswara University - Sri Venkateswara Institute of Medical Sciences - Department of Biotechnology, India , Sridhar, Naga Sri Venkateswara University - Sri Venkateswara Institute of Medical Sciences - Department of Nephrology, India , Krishnakishore, Chennu Sri Venkateswara University - Sri Venkateswara Institute of Medical Sciences - Department of Nephrology, India , Sandeep, Yanala Sri Venkateswara University - Sri Venkateswara Institute of Medical Sciences - Department of Nephrology, India , Manjusha, Yadla Sri Venkateswara University - Sri Venkateswara Institute of Medical Sciences - Department of Nephrology, India , Sivakumar, Vishnubhotla Sri Venkateswara University - Sri Venkateswara Institute of Medical Sciences - Department of Nephrology, India
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.
