title: [Immunohistochemistry contribution in Alport syndrome diagnosis].
abstract: Alport syndrome (AS) is an hereditary disease characterised by the association of progressive hematuria nephritis. The diagnosis is based on clinical genetic and ultrastructural findings. Nowadays, immunohistochemical technique is of great interest. It enables us to analyze the distribution of the different chains of the type IV collagen in renal basement membrane (RBM) and epidermal basement membrane (EBM) which appeared to be abnormal in 70% of cases.
  
  
  METHODS
  We report a prospective study of five families affected with AS. Six patients were investigated by immunohistochemical studies of kidney (3 cases) and skin (6 cases) frozen specimens. Monoclonal antibodies recognizing the collagenous domain of alpha1 (MAB1), alpha3 (MAB3) and alpha5 (MAB5) chains of type IV collagen were used. Two methods were performed: direct immunofluorescence and immunohistochemical (ultravision) analysis.
  
  
  RESULTS
  The different chains distribution of type IV collagen in the EBM and RBM was normal in four cases (4 men), abnormal in two patients (1 man and woman). Based on the clinical, genetical and immunohistochemical findings we established three transmission modes: autosomal recessive in two families, dominant X linked in two other familiales, and autosomal dominant in one family.
  
  
  CONCLUSIONS
  Immunohistochemical studies is a simple technique of an easy interpretation accomplished on kidney frozen specimen, or even on a simple cutaneous biopsy. It could be very useful for the diagnosis and enables us in addition to determine the mode of transmission of AS.
authors.affiliation: Laboratoire d'anatomie et de cytologie pathologique, CHU Habib-Bourguiba, Sfax, Tunisie. akabdelmajid@yahoo.fr
authors.forename: S
authors.initials: S
authors.lastname: Krichen Makni
authors.forename: M
authors.initials: M
authors.lastname: Kharrat
authors.forename: M
authors.initials: M
authors.lastname: Ben Hmida
authors.forename: H
authors.initials: H
authors.lastname: Chaker
authors.forename: M-C
authors.initials: MC
authors.lastname: Gubler
authors.forename: C
authors.initials: C
authors.lastname: Antignac
authors.forename: R
authors.initials: R
authors.lastname: Jlidi
authors.forename: J
authors.initials: J
authors.lastname: Hachicha
authors.forename: T
authors.initials: T
authors.lastname: Sellami Boudwara
mesh_terms: D000293:Adolescent; D000328:Adult; D000911:Antibodies, Monoclonal; D001706:Biopsy; D005260:Female; D005455:Fluorescent Antibody Technique; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods*; D007668:Kidney / Q000473:pathology; D008297:Male; D009394:Nephritis, Hereditary / Q000175:diagnosis* / Q000473:pathology; D011446:Prospective Studies
chemical_list: D000911:Antibodies, Monoclonal