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[Distal renal tubular acidosis: report of 3 cases].

作者信息

Guibaud P, Parchoux B, Langue J, Bouissou F, Barthe P, Larbre F

出版信息

J Genet Hum. 1979 Jun;27(2):157-66.

PMID:541679
Abstract

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.

摘要

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