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Saudi Journal of Kidney Diseases and Transplantation
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CASE REPORT Table of Contents   
Year : 2015  |  Volume : 26  |  Issue : 1  |  Page : 119-121
Distal renal tubular acidosis with nerve deafness secondary to ATP6B1 gene mutation


1 Department of Nephrology, Sri Venkateswara Institute of Medical Sciences, Sri Venkateswara University, Tirupati, India
2 Department of Biotechnology, Sri Venkateswara Institute of Medical Sciences, Sri Venkateswara University, Tirupati, India

Correspondence Address:
Dr. Vishnubhotla Sivakumar
Department of Nephrology, Sri Venkateswara Institute of Medical Sciences, Sri Venkateswara University, Tirupati
India
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DOI: 10.4103/1319-2442.148757

PMID: 25579729

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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.


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