[Distal renal tubular acidosis: report of 3 cases].
Three observations of R.T.A. with nerve deafness are reported. Case 1 and 2 concern consanguinous brothers whose parents are not affected, which confirm the syndrom as an autosomal recessive entity. The third, sporadic, case relates to a 13-year-old non consanguinous girl. Metabolic abnormalities and renal evolution with nephrocalcinosis was such as in Albright disease. However a progressive nerve deafness makes distinction. The authors underline the importance of this sometimes difficult distinction for genetic counseling.
D000141:Acidosis, Renal Tubular / Q000150:complications / Q000235:genetics*; D000293:Adolescent; D002675:Child, Preschool; D003241:Consanguinity; D003638:Deafness / Q000150:complications / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D010375:Pedigree; D013577:Syndrome
Acidose renale tubulaire distale avec surdite a propos de 3 observations.