title: [Familial distal tubular acidosis].
abstract: This study concerned a Tunisian family of 52 members. We have looked for distal tubular acidosis (D.T.A.) after we had discovered that 2 members of this family suffered from nephrocalcinosis with D.T.A. Twenty six of our patients (group I) suffered from D.T.A., 17 from confirmed metabolic acidosis with low urinary pH (5.22 +/- 0.25). Patients of latest groups may present a D.T.A. with intact capacity to lower urinary pH. Our literature review revealed 27 families composed of 228 patients.
authors.affiliation: Service de Néphrologie et Médecine interne, C.H.U. Monastir, Tunisie.
authors.forename: N
authors.initials: N
authors.lastname: Ben Dhia
authors.forename: S
authors.initials: S
authors.lastname: Mahjoub
authors.forename: M F
authors.initials: MF
authors.lastname: Najjar
authors.forename: A
authors.initials: A
authors.lastname: Achour
authors.forename: H
authors.initials: H
authors.lastname: Zouaghi
authors.forename: A
authors.initials: A
authors.lastname: Bchir
authors.forename: M
authors.initials: M
authors.lastname: Marzouk
authors.forename: M
authors.initials: M
authors.lastname: Elmay
mesh_terms: D000141:Acidosis, Renal Tubular / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007686:Kidney Tubules, Distal; D008297:Male; D009397:Nephrocalcinosis / Q000235:genetics; D010375:Pedigree
vernacular_title: Acidose tubulaire distale familiale.