title: [How I investigate ... Alport's syndrome by skin biopsy. When the skin speaks for the kidney].
abstract: Alport's syndrome is a severe hereditary renal disease. Type IV collagen is abnormal in its molecular composition both in the kidneys and the skin. Immunohistochemistry performed on a conventional skin biopsy allows to prove the diagnosis in the affected subjects and in healthy women exhibiting the mutation on a single X chromosome.
authors.affiliation: Service de Néphrologie, Université de Liège.
authors.forename: P
authors.initials: P
authors.lastname: Delanaye
authors.forename: A F
authors.initials: AF
authors.lastname: Nikkels
authors.forename: O
authors.initials: O
authors.lastname: Martalo
authors.forename: C
authors.initials: C
authors.lastname: Dechenne
authors.forename: J E
authors.initials: JE
authors.lastname: Arrese
authors.forename: G
authors.initials: G
authors.lastname: Rorive
authors.forename: G E
authors.initials: GE
authors.lastname: Piérard
mesh_terms: D001706:Biopsy; D041321:Chromosomes, Human, X / Q000235:genetics*; D024141:Collagen Type IV / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D009394:Nephritis, Hereditary / Q000175:diagnosis*; D012871:Skin Diseases / Q000209:etiology* / Q000473:pathology*
chemical_list: D024141:Collagen Type IV