1.
Indian Pediatr
;
2009 May; 46(5): 425-427
Article
in English
| IMSEAR
| ID: sea-144038
ABSTRACT
Distal renal tubular acidosis (RTA) with sensorineural deafness is a rare entity, inherited in an autosomal recessive manner. It is caused by mutations in the ATP6V1B1 gene, leading to defective function of H+-ATPase pump in the distal nephron, cochlea and endolymphatic sac. We report two siblings with distal RTA and sensorineural deafness having mutation C>T in the first coding exon of the gene, resulting in a non functional protein. The parents were found to be carriers for the mutation.
Subject(s)
Acidosis, Renal Tubular/genetics , Acidosis, Renal Tubular/blood , Hearing Loss, Sensorineural/blood , Hearing Loss, Sensorineural/genetics , Proton-Translocating ATPases/blood , Proton-Translocating ATPases/genetics , Vacuolar Proton-Translocating ATPases/genetics , Infant , Child, Preschool , Female , Humans
2.
Rev. bras. anestesiol
;
39(2): 155-6, mar.-abr. 1989.
Article
in Portuguese
| LILACS
| ID: lil-74488