Distribution of α-chains of type IV collagen in glomerular basement membranes with ultrastructural alterations suggestive of Alport syndrome

Paola Barsotti, Andrea Onetti Muda, Gianna Mazzucco, Laura Massella, Bruno Basolo, Mario De Marchi, Gianfranco Rizzoni, Guido Monga, Tullio Faraggiana

Research output: Contribution to journalArticlepeer-review

Abstract

Background. In Alport syndrome (AS) impaired production and/or assembly of col IV α-chain isoforms results in abnormal structure of glomerular basement membrane (GBM), haematuria and, frequently, progressive renal disease. We investigated the relationship between col IV α-chains expression and morphology of GBM, as a possible key to the better understanding of the pathogenesis of renal disease in AS. Methods. GBM distribution of col IV αl-, α3-, and α5-chain was investigated by immunohistochemistry in 32 patients (21 males and 11 females, mean age at biopsy of 11.5 years) with ultrastructural findings suggestive of AS. Ten patients had a proven COL4A5 mutation. Based on the severity of ultrastructural findings, the biopsies were grouped in three (I-III) electron microscopy (EM) classes. Significant EM changes of GBM (thinning, thickening, splitting, basket weaving of the lamina densa) were singularly evaluated using a semiquantitative scale (0-3). Results. Col IV α1-chain was demonstrated in GBM of all patients. Three patterns of staining for col IVα3-and α5-chains were observed: positive, negative, and α3(IV)-positive/α5(IV)-negative. By Χ2-test, EM class III lesions and complete loss of α3(IV)- and α5(IV)-antigen were significantly more frequent (P

Original languageEnglish
Pages (from-to)945-952
Number of pages8
JournalNephrology Dialysis Transplantation
Volume16
Issue number5
Publication statusPublished - 2001

Keywords

  • Alport syndrome
  • COL4A5 gene mutations
  • Electron microscopy
  • Glomerular basement membrane
  • Immunohistochemistry
  • Type IV collagen

ASJC Scopus subject areas

  • Nephrology
  • Transplantation

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