E. Lagona, L. Tsartsali, S. Kostaridou, A. Skiathitou, E. Georgaki, F. Sotsiou

Abstract

Alport syndrome (AS) is the most common hereditary nephritis often associated with extrarenal manifestations. It was first described by Alport on 1927. There is a primary disorder in collagen type IV which is the main component of the basement membranes. Alport syndrome is more frequently inherited as an X-linked and less commonly as an autosomal dominant or autosomal recessive trait. We describe the case of a 3-year-old boy with the X-linked variant of AS. The diagnosis was at first speculated from the child???s detailed family history and was finally confirmed by a skin biopsy. Skin biopsy is an efficient and less invasive method for the X-linked variant of the AS diagnosis.

Read PDF