[How I investigate ... Alport's syndrome by skin biopsy. When the skin speaks for the kidney].
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.
Delanaye
P
P
Service de Néphrologie, Université de Liège.
Nikkels
A F
AF
Martalo
O
O
Dechenne
C
C
Arrese
J E
JE
Rorive
G
G
Piérard
G E
GE
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*
D024141:Collagen Type IV