1.
Indian Pediatr
;
2009 May; 46(5): 425-427
Article
Dans Anglais
| IMSEAR
| ID: sea-144038
Résumé
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.
Sujets)
Acidose tubulaire rénale/génétique , Acidose tubulaire rénale/sang , Surdité neurosensorielle/sang , Surdité neurosensorielle/génétique , Proton-Translocating ATPases/sang , Proton-Translocating ATPases/génétique , Vacuolar Proton-Translocating ATPases/génétique , Nourrisson , Enfant d'âge préscolaire , Femelle , Humains
2.
Rev. bras. anestesiol
;
39(2): 155-6, mar.-abr. 1989.
Article
Dans Portugais
| LILACS
| ID: lil-74488