What is the Genetic Inheritance of Alport Syndrome?

Discussion Alport Syndrome is a genetic disease classically associated with progressive renal disease often leading to end stage renal disease, variable sensory neuronal deafness and ocular findings (perimacular retinopathy). A. Cecil Alport built on the work of others evaluating families with nephritis and/or hematuria. However he very clearly describes the third generation of a family with an X-linked dominant pattern and also emphasizes the syndrome’s associated deafness. Alport writes: “It will be seen from this that nearly all the children of three generations of one family suffer from hematuria or nephritis associated with deafness. The deafness, which has not been stressed in the literature on the subject, is one of the most distressing features of this extraordinary disease.” “This nerve deafness is apparently the type of defective hearing to which members of his family are subject. It occurs not only in the individuals who have nephritis or haematuria, but also in those who are otherwise perfectly healthy.” His summary comments include: “1. Hereditary familiar or congenital nephritis is a definite entity, and the kidneys in these patients are more susceptible to damage by the toxin of an unknown organism that is the cause and the normal person…. 5. Deafness is a marked feature in nearly all cases. 6. The male members of a family tend to develop nephritis and deafness and do not as a rule survive. The females have deaf...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news