Hereditary proteinuria syndromes and mechanisms of proteinuria
Article Abstract:
An analysis of several rare genetic disorders in which proteinuria is a prominent feature has led to the identification of proteins required for the development and function of the glomerular filtration barrier, and the new data on these syndromes have yielded insights into the molecular structure of the podocyte slit diaphragm. Mutations in the same gene can result in different phenotypes, so patients with these disorders should undergo genetic testing, if possible.
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2006
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Type II collagen gene variants and inherited osteonecrosis of the femoral head
Article Abstract:
A haplotype analysis was carried out in the families, and candidate genes from the critical interval were selected for an avascular necrosis of the femoral head (ANFH) on 12q13. The result showed that in families with ANFH, haplotype and sequence analysis of the type II collagen gene (COL2AI) can be used to identify carriers of the mutant allele before the onset of clinical symptoms, allowing the initiation of measures that may delay progression of the disease.
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2005
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Alport's syndrome, Goodpasture's syndrome, and type IV collagen
Article Abstract:
The causes, diagnosis, and treatment of Alport's syndrome and Goodpasture's syndrome are reviewed. These two diseases involve type IV collagen. A mutation in the gene for collagen IV causes Alport's syndrome. Patients with Goodpasture's syndrome produce antibodies against collagen IV.
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2003
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