Title : Comment j'explore ... le syndrome d'Alport par la biopsie cutanée. Quand la peau parle pour le rein. Language : French Alternative title : [en] How I investigate ... Alport's syndrome by skin biopsy. When the skin speaks for the kidney.Author, co-author : Delanaye, Pierre [Centre Hospitalier Universitaire de Liège - CHU > > Néphrologie >] Nikkels, Arjen [Centre Hospitalier Universitaire de Liège - CHU > > Dermatologie >] Martalo, O. [> > > >] Dechenne, Charles [Centre Hospitalier Universitaire de Liège - CHU > > Néphrologie >] Arrese Estrada, Jorge [Centre Hospitalier Universitaire de Liège - CHU > > Dermatopathologie >] Rorive, Georges [Université de Liège - ULg > Département des sciences cliniques > Département des sciences cliniques >] Pierard, Gérald [Centre Hospitalier Universitaire de Liège - CHU > > Dermatopathologie >] Publication date : 2002 Journal title : Revue Médicale de Liège Volume : 57 Issue/season : 10 Pages : 670-1 ISSN : 0370-629X Country : Belgium Keywords : [en] Biopsy ; Chromosomes, Human, X/genetics ; Collagen Type IV/genetics ; Diagnosis, Differential ; Female ; Humans ; Immunohistochemistry ; Nephritis, Hereditary/diagnosis ; Skin Diseases/etiology/pathologyAbstract : [en] 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.Permalink : http://hdl.handle.net/2268/11906 
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