[Clinical and genetics aspects of Alport syndrome].
Microscopic haematuria of glomerular origin, without known aetiology, should raise the suspicion of Alport Syndrome IASI in children as well as in adults. The genetic mutations causing AS lie in the genes encoding for the alpha3, alpha4 and alpha5 chains of the collagen type IV, the main constituent of glomerular basement membranes (GBM). The various mutations and modes of transmission of the disease account for the heterogeneous clinical presentations. No specific treatment of AS is currently available. However, a better understanding of the GBM's ultrastructure, in particular of type IV collagen, will hopefully enable the identification of novel therapeutic targets.
Service de néphrologie et consultation d'hypertension, Département de médecine, CHUV, Lausanne.
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D
Golshayan
J P
JP
Venetz
F
F
Cachat
F
F
Fellmann
S
S
Moll
M
M
Burnier
F
F
Barbey
D003663:Decision Trees; D005260:Female; D006801:Humans; D008297:Male; D009394:Nephritis, Hereditary / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree