title: [Renal tubular acidosis and perception deafness. Apropos of a familial form].
abstract: We report a case of primary distal tubular acidosis with sensorineural deafness in two children from the same family. Failure to thrive at age one month was the first manifestation. Administration of bicarbonates allowed rapid resumption of normal growth. Inheritance is recessive and autosomal, contrary to isolated distal tubular acidosis. Early detection of deafness, a common feature that can easily be treated by hearing aids, should avoid delays in development of speech.
authors.affiliation: Clinique de Pédiatrie, Hôpital Ambroise Paré, Boulogne.
authors.forename: B
authors.initials: B
authors.lastname: Chevallier
authors.forename: V
authors.initials: V
authors.lastname: Toulemonde
authors.forename: V
authors.initials: V
authors.lastname: Negre
authors.forename: B
authors.initials: B
authors.lastname: Lagardere
authors.forename: J P
authors.initials: JP
authors.lastname: Gallet
mesh_terms: D000141:Acidosis, Renal Tubular / Q000150:complications* / Q000235:genetics; D003638:Deafness / Q000150:complications* / Q000235:genetics; D005192:Family Health; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree
vernacular_title: Acidose tubulaire rénale et surdité de perception. A propos d'une forme familiale.