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Familial infantile renal tubular acidosis and congenital nerve deaf ness: An autosomal recessive syndrome
Author(s) -
Cohen T.,
BrandAuraban A.,
Karshai C.,
Jacob A.,
Gay I.,
Tsitsianov J.,
Shapiro T.,
Jatziv S.,
Ashkenazi A.
Publication year - 1973
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1973.tb01155.x
Subject(s) - renal tubular acidosis , consanguinity , medicine , distal renal tubular acidosis , autosomal recessive trait , autosomal recessive inheritance , acidosis , pediatrics , endocrinology , genetics , biology , gene
Two sibships of a large kindred are described, each with consanguinity of the parents, four children of which were affected with severe infantile renal tubular acidosis and congenital nerve deafness. Otological, audiometric and laboratory examinations of 25 additional family members were conducted. The findings indicate that this syndrome is inherited as an autosomal recessive trait. It is suggested that this syndrome is distinct from a less severe form of renal tubular acidosis and progressive mild nerve deafness which has a later age of onset.