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| CASE REPORT |
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| Year : 2015 |
Volume
: 26 | Issue : 1 | Page
: 119-121 |
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Distal renal tubular acidosis with nerve deafness secondary to ATP6B1 gene mutation
Parvathina Sriram Naveen1, Lokanatha Srikanth2, Katari Venkatesh2, Potukuchi Venkata Gurunadha Krishna Sarma2, Naga Sridhar1, Chennu Krishnakishore1, Yanala Sandeep1, Yadla Manjusha1, Vishnubhotla Sivakumar1
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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