glomerulocystic kidney disease with hyperuricaemia and isosthenuria

glomerulocystic kidney disease with hyperuricaemia and isosthenuria

A renal disorder (OMIM:609886) characterised by cystic dilation of the Bowman space, collapse of glomerular tufts, and hyperuricaemia due to low fractional excretion of uric acid and severely impaired urine concentrating ability.

Molecular pathology
Caused by defects of UMOD, which encodes uromodulin (the most abundant protein in urine).