Article
Autosomal dominant Alport's syndrome: study of a large Tunisian family.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia - 1 Sept 2006
Kharrat M, Makni S, Makni K, Kammoun K, Charfeddine K, Azaeiz H, Jarraya F, Ben Hmida M, Gubler M C, Ayadi H, Hachicha J
Abstract excerpt
Alport's syndrome is a hereditary nephritis that may lead to end-stage renal disease (ESRD) in early adult life. It is a clinically and genetically heterogeneous nephropathy. Alport's syndrome is often associated with sensorineural deafness and/or ocular abnormalities. In contrast with the well-known X-linked phenotype, very little is known about the autosomal dominant form caused by mutations in COL4A3 and...
Topics
- Adolescent
- Adult
- Autoantigens
- Child
- Collagen Type IV
- DNA
- Epitopes
- Female
- Follow-Up Studies
- Humans
- Immunohistochemistry
- Incidence
- Kidney
- Kidney Failure, Chronic