Title of article
Distal renal tubular acidosis with nerve deafness secondary to ATP6B1 gene mutation
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
From page
119
To page
121
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.
Journal title
Saudi Journal of Kidney Diseases and Transplantation
Journal title
Saudi Journal of Kidney Diseases and Transplantation
Record number
2521328
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