Document Detail

Spectrum of collagen type IV nephropathies: from thin basement membrane nephropathy to Alport syndrome.
MedLine Citation:
PMID:  20804103     Owner:  NLM     Status:  MEDLINE    
Alport syndrome and thin basement membrane nephropathy are common causes of persistent familial haematuria. They are associated with various mutations in type IV collagen genes. Mutations in genes, coding for alpha5 chain of collagen IV, cause X-linked Alport syndrome, whereas mutations in genes for alpha3 and alpha4 chains can cause the autosomal recessive and autosomal dominant type of Alport syndrome or benign familial haematuria with thin basement membrane nephropathy. In view of the wide spectrum of phenotypes, an exact diagnosis is sometimes difficult to achieve. Few studies of genotype-phenotype correlations in Alport syndrome have shown that various types of mutations may be a significant predictor of the severity of disease. Histopathologic findings in Alport syndrome vary from normal kidney to nonspecific focal segmental and global glomerular sclerosis with characteristic ultrastructural finding of thickening and splitting of the glomerular basement membrane. Thin basement membrane nephropathy is characterized by diffuse thinning of the glomerular basement membrane on an ultrastructural level, while by light microscopy glomeruli are mostly unremarkable. Because of present limitations of mutation screening techniques, kidney biopsy with mandatory ultrastructural analysis and immunohistochemistry examination for type IV collagen alpha chains remains a standard approach for establishing diagnosis and determining the mode of transmission of the disease.
Alenka Vizjak; Dusan Ferluga
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Srpski arhiv za celokupno lekarstvo     Volume:  136 Suppl 4     ISSN:  0370-8179     ISO Abbreviation:  Srp Arh Celok Lek     Publication Date:  2008 Dec 
Date Detail:
Created Date:  2010-08-31     Completed Date:  2010-10-12     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0027440     Medline TA:  Srp Arh Celok Lek     Country:  Serbia    
Other Details:
Languages:  eng     Pagination:  323-6     Citation Subset:  IM    
Institute of Pathology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
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MeSH Terms
Anti-Glomerular Basement Membrane Disease / genetics*,  pathology
Collagen Type IV / genetics*
Genetic Association Studies
Hematuria / genetics
Kidney Glomerulus / pathology
Nephritis, Hereditary / genetics*,  pathology
Reg. No./Substance:
0/Collagen Type IV

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