Variations Between Alport, Pierson Syndromes Explain Kidney Damage Differences

While Alport syndrome and Pierson syndrome are two diseases caused by mutations in genes important for the correct functioning of the kidney’s filtration system, the two diseases have different manifestations. Understanding what these syndromes have in common and what distinguishes them may benefit the design of targeted therapies for each…

Alport Disease Severity May Be Influenced by Additional, Non-Collagen Gene Mutations

Researchers report that mutations in kidney genes not involved in collagen production may worsen the severity of Alport syndrome. The study may provide an explanation as to why Alport patients can have widely varying disease severity. A specific mutation in the LAMB2 gene, which is linked to the genetic disease…