Aim: Primary distal renal tubuler acidosis dRTA is a rare genetic disease. Autosomal recessive primary dRTA manifest as sensorineural hearing loss SNHL . Mutations in ATP6V1B1 are associated with early onset SNHL. We report our cases with dRTA and association of SNHL with having mutations in ATP6V1B1 gene. Method: The records of 22 patients, with dRTA at İstanbul University Pediatric Nephrology Department between 1992 and 2005 were evaluated retrospectively with respect to age, sex, consanguineous, SNHL and ATP6V1B1 gene mutation. Audiogram was used for evaluating SNHL. ATP6V1B1 gene mutation was analyzed. We studied the relationship between dRTA and SNHL with ATP6V1B1 gene mutation. Results: ATP6V1B1 gene mutation was found in 11 patients and ATP6N1B1 mutation in 4 patients. SNHL was detected in 9 patients who had gene mutations. No patient had SNHL who had no gene mutation. Conclusion: Our results support the association between ATP6V1B1 gene mutation and SNHL are associated with dRTA.
Alan : Sağlık Bilimleri
Dergi Türü : Uluslararası
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