Glomerulocystic kidney disease with hyperuricemia and isosthenuria
The type of glomerulocystic kidney disease that is caused by mutation of the UMOD gene is characterized by hyperuricemia and isosthenuria while the clinical picture of the type that is caused by HNF1B mutations is dominated by hypoplasia. Both forms are dominantly inherited.
The diagnosis can be made by histomorphology. The typical picture includes cystic dilatation of the Bowman space and the initial proximal convoluted tubule.
Rampoldi L et al. (2003) Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.[^]
Flaherty L et al. (1995) New mouse model for polycystic kidney disease with both recessive and dominant gene effects.[^]
Sharp CK et al. (1997) Dominantly transmitted glomerulocystic kidney disease: a distinct genetic entity.[^]
OMIM.ORG articleOmim 609886 [^]