Genetics of Alport's syndrome

Abstract

The pattern of inheritance in Alport's syndrome has been controversial for some time. Recent studies have clarified the mode of inheritance in this disease. Alport's syndrome is a heterogeneous disorder made up of a number of genetically distinct syndromes, with an autosomal dominant, an X-linked dominant and a rare autosomal recessive form. Clinical analysis shows that there are many distinct forms with or without nerve deafness, and with early or late occurrence of end-stage renal disease.