Document Detail

Prognostic value of glomerular collagen IV immunofluorescence studies in male patients with X-linked Alport syndrome.
MedLine Citation:
PMID:  23371956     Owner:  NLM     Status:  MEDLINE    
BACKGROUND AND OBJECTIVES: X-linked Alport syndrome (X-AS) is caused by mutations of the COL4A5 gene, which encodes for the collagen IV α5 chain (α5[COLIV]), resulting in structural and functional abnormalities of the glomerular basement membrane (GBM) and leading to CKD. The aim of the present study was to evaluate the prognostic value of residual collagen IV chain expression in the GBM of patients with X-AS.
DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: The medical records of 22 patients with X-AS from 21 unrelated families collected between 1987 and 2009 were reviewed (median age at last follow-up, 19.9 years; range, 5.4-35.1 years); GBM expression of α1, α3, and α5(COLIV) chains was assessed by immunofluorescence microscopy.
RESULTS: GBM distribution of the α5(COLIV) chain was diffuse in 1 and segmental or absent in 21 of the 22 patients; the expression of the α3(COLIV) chain was diffuse in 5 of 22 patients and segmental or absent in 17 of 22 patients. Patients with diffuse staining for the α3(COLIV) chain presented with proteinuria significantly later (median age, 16.9 versus 6.1 years; P=0.02) and reached an estimated GFR < 90 ml/min per 1.73 m(2) at an older age (median age, 27.0 versus 14.9 years; P=0.01) compared with patients with segmental or absent staining. Two thirds of patients with abnormal α3(COLIV) expression by immunofluorescence studies had null or truncating COL4A5 mutations, as opposed to none of the 4 tested patients with diffuse α3(COLIV) chain glomerular distribution.
CONCLUSIONS: These results indicate that maintained expression of the α3(COLIV) chain is an early positive prognostic marker in patients with X-linked Alport symdrome.
Laura Massella; Concetta Gangemi; Kostas Giannakakis; Antonella Crisafi; Tullio Faraggiana; Chiara Fallerini; Alessandra Renieri; Andrea Onetti Muda; Francesco Emma
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Publication Detail:
Type:  Journal Article     Date:  2013-01-31
Journal Detail:
Title:  Clinical journal of the American Society of Nephrology : CJASN     Volume:  8     ISSN:  1555-905X     ISO Abbreviation:  Clin J Am Soc Nephrol     Publication Date:  2013 May 
Date Detail:
Created Date:  2013-05-08     Completed Date:  2013-12-16     Revised Date:  2014-05-07    
Medline Journal Info:
Nlm Unique ID:  101271570     Medline TA:  Clin J Am Soc Nephrol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  749-55     Citation Subset:  IM    
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MeSH Terms
Age Factors
Autoantigens / analysis*
Biological Markers / analysis
Child, Preschool
Collagen Type IV / analysis*
Disease Progression
Fluorescent Antibody Technique*
Glomerular Basement Membrane / chemistry*,  pathology,  physiopathology
Glomerular Filtration Rate
Kaplan-Meier Estimate
Microscopy, Fluorescence
Nephritis, Hereditary / genetics,  metabolism*,  pathology,  physiopathology
Predictive Value of Tests
Proteinuria / genetics,  metabolism
Retrospective Studies
Time Factors
Young Adult
Reg. No./Substance:
0/Autoantigens; 0/Biological Markers; 0/COL4A1 protein, human; 0/COL4A5 protein, human; 0/Collagen Type IV; 0/type IV collagen alpha3 chain

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