Document Detail

Alport syndrome and thin basement membrane nephropathy.
MedLine Citation:
PMID:  17570934     Owner:  NLM     Status:  MEDLINE    
Both Alport syndrome and thin basement membrane nephropathy (TBMN) can be considered as genetic diseases of the GBM involving the alpha3/alpha4/alpha5 network of type IV collagen. Mutations in any of the COL4A3, COL4A4 or COL4A5 genes can lead to total or partial loss of this network. Males with mutations in the X-linked COL4A5 gene develop Alport syndrome with progressive renal disease and sometimes extra-renal disease. Females who are heterozygous for a COL4A5 mutation are considered to be carriers for X-linked Alport syndrome. Although their clinical course and GBM ultrastructural changes can sometimes mimic TBMN, more often it tends to be more progressive than usually seen in TBMN. Males or females who are heterozygous for COL4A3 or COL4A4 mutations usually manifest as TBMN, with nonprogressive hematuria, while those who are homozygous or combined heterozygotes develop autosomal-recessive Alport syndrome. Thus, individuals with TBMN can be considered to be carriers for autosomal-recessive Alport syndrome, but there remain some exceptions in which patients heterozygous for COL4A3 or COL4A4 mutations develop autosomal-dominant Alport syndrome. Distinguishing between all these groups of patients requires a combination of family history and a renal biopsy for electron microscopic examination of the GBM and immunohistochemical staining of the GBM for the alpha3, alpha4 and alpha5 chains of type IV collagen. Mutational analysis of the COL4A3, COL4A4, and COL4A5 genes, whenever it becomes available, will be a valuable adjunct to the diagnostic workup in these patients. Novel therapeutic approaches may one day provide a treatment or cure for these patients, avoiding the need for transplantation and dialysis.
Paul Scott Thorner
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Publication Detail:
Type:  Journal Article; Review     Date:  2007-06-06
Journal Detail:
Title:  Nephron. Clinical practice     Volume:  106     ISSN:  1660-2110     ISO Abbreviation:  Nephron Clin Pract     Publication Date:  2007  
Date Detail:
Created Date:  2007-06-15     Completed Date:  2007-07-10     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101159763     Medline TA:  Nephron Clin Pract     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  c82-8     Citation Subset:  IM    
Copyright Information:
Copyright 2007 S. Karger AG, Basel.
Division of Pathology, Hospital for Sick Children, Toronto, ON, Canada.
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MeSH Terms
Glomerular Basement Membrane / physiopathology*
Glomerulonephritis, Membranous / diagnosis*,  physiopathology,  therapy*
Nephritis, Hereditary / diagnosis*,  physiopathology,  therapy*

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