Do you pursue a skin biopsy or kidney biopsy in patients whom you suspect have X-linked Alport syndrome?  

The approach to the diagnosis of Alport syndrome has changed over the past decade with heavier reliance on molecular genetic testing sometimes prior to or in lieu of tissue diagnosis, however, this is dependent upon many factors including insurance coverage and availability of electron microscopy. G...

"Alports" is now a whole array of phenotypes related to Col4A3-5 mutations that follow X-linked and autosomal dominant and recessive inheritance patterns. The diagnosis is easy when it is a young male with hearing loss and a brother on dialysis, but there are so many other faces of Col4A3-5 diseases...