[Familial distal tubular acidosis].
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.
Ben Dhia
N
N
Service de Néphrologie et Médecine interne, C.H.U. Monastir, Tunisie.
Mahjoub
S
S
Najjar
M F
MF
Achour
A
A
Zouaghi
H
H
Bchir
A
A
Marzouk
M
M
Elmay
M
M
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
Acidose tubulaire distale familiale.