Nephritis is a general term for inflammation of the kidneys. There are several hereditary forms of nephritis. Alport's syndrome (AS) is one of these but is unique because of the additional symptom of hearing loss in the presence of kidney failure. The disorder causes chronic glomerulonephritis with destruction of the glomeruli. The eventual result is end stage renal disease (ESRD) requiring dialysis (or transplantation) develops between adolescence and age 40.
AS affects the basement membranes which are the supporting layers of epithelial and endothelial tissues that make up much of the body's surfaces. The cause is a mutation in a gene for collagen. The disorder is uncommon, affecting about 2 out of 10,000 people.
Nephritis is a general term for inflammation of the kidneys. There are several hereditary forms of nephritis. Alport's syndrome (AS) is one of these but is unique because of the additional symptom of hearing loss in the presence of kidney failure. The disorder causes chronic glomerulonephritis with destruction of the glomeruli. The eventual result is end stage renal disease (ESRD) requiring dialysis (or transplantation) develops between adolescence and age 40.
The cause of AS is a mutation in a gene for collagen. The disorder is uncommon, affecting about 2 out of 10,000 people. Treatment requires medication, and often, kidney transplant.
This MediFocus Guide contains an extensive listing of citations and abstracts of recent journal articles that have been published about this condition in trustworthy medical journals. This is the same type of information that is available to physicians and other health care professionals. A partial selection of journal articles that are abstracted in this MediFocus Guide includes:
Alport syndrome and diffuse leiomyomatosis. Clinical aspects, pathology, molecular biology and extracellular matrix studies. A synthesis. Nephrologie. 2000
Animal models of Alport syndrome: advancing the prospects for effective human gene therapy. Experimental Nephrology. 2000
Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes. Medicine. 1999
Alport syndrome. A review of the ocular manifestations. Ophthalmic Genetics. 1997
Can Alport syndrome be treated by gene therapy?. Kidney International. 1997
Alport's syndrome. Journal of Medical Genetics. 1997
Alport syndrome. Kidney International - Supplement. 1997
Alport syndrome. Kidney International. 1996
Ocular clues to the nature of disease causing end-stage renal failure. Nephrology, Dialysis, Transplantation. 2000
Long-term effects of cyclosporine A in Alport's syndrome. Kidney International. 1999
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