Comment j'explore ... le syndrome d'Alport par la biopsie cutanée. Quand la peau parle pour le rein.

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.