Genetic heterogeneity of Alport syndrome

Feingold, Josué; Bois, Etienne; Chompret, Agnès; Broyer, Michel; Gubler, Marie-Claire; Grünfeld, Jean-Pierre
April 1985
Kidney International;Apr1985, Vol. 27 Issue 4, p672
Academic Journal
Forty-one families have been studied with stringent diagnostc criteria of Alport syndrome: proven renal disease with hematuria affecting at least two relatives, neural hearing loss in at least one affected individual, and evolution to renal failure in at leastone affected individual. The proportion of affected offsprings of affected females does not significantly differ from the ratio expected for a dominant trait. The descendance of affected males shows a lack of affected males. In four families, with parental consanguinity and nonaffected parents, te findings agree with an autosomal recessive inheritance. Study of quantitative traits such as death or renal death among brothers, uncle-nephew pairs and whole families shows evident intra-familial resemblances. We conclude that Alport syndrome seems to be a heterogeneous state composed of a number of genetically distinct syndromes, with an autosomal dominant, an X-linked dominant, and an autosomal recessive form.


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