volume 8, issue 10, Pe78337 2013
DOI: 10.1371/journal.pone.0078337
View full text
|
Sign up to set email alerts
|
Share

Abstract: Uromodulin-associated kidney disease (UAKD) summarizes different clinical features of an autosomal dominant heritable disease syndrome in humans with a proven uromodulin (UMOD) mutation involved. It is often characterized by hyperuricemia, gout, alteration of urine concentrating ability, as well as a variable rate of disease progression inconstantly leading to renal failure and histological alterations of the kidneys. We recently established the two Umod mutant mouse lines Umod C93F and Umod A227T on the C3H i…

Expand abstract