Article
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene.
Kidney international - 1 May 2004
Pescucci Chiara, Mari Francesca, Longo Ilaria, Vogiatzi Paraskevi, Caselli Rossella, Scala Elisa, Abaterusso Cataldo, Gusmano Rosanna, Seri Marco, Miglietti Nunzia, Bresin Elena, Renieri Alessandra
Abstract excerpt
BACKGROUND: Alport syndrome is a clinically and genetically heterogeneous nephropathy. The majority of cases are transmitted as an X-linked semidominant condition due to COL4A5 mutations. In this form males are more severely affected than females. Less than 10% of cases are autosomal recessive due to mutation in either COL4A3 or COL4A4. In this rarer form, both males and females are severely affected. Only two...
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