| Autor: |
Parvathina Sriram Naveen, Lokanatha Srikanth, Katari Venkatesh, Potukuchi Venkata Gurunadha Krishna Sarma, Naga Sridhar, Chennu Krishnakishore, Yanala Sandeep, Yadla Manjusha, Vishnubhotla Sivakumar |
| Jazyk: |
angličtina |
| Rok vydání: |
2015 |
| Předmět: |
|
| Zdroj: |
Saudi Journal of Kidney Diseases and Transplantation, Vol 26, Iss 1, Pp 119-121 (2015) |
| Druh dokumentu: |
article |
| ISSN: |
1319-2442 |
| DOI: |
10.4103/1319-2442.148757 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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