glomerulocystic kidney disease with hyperuricaemia and isosthenuria(redirected from GCKDHI)
glomerulocystic kidney disease with hyperuricaemia and isosthenuriaA 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.
Caused by defects of UMOD, which encodes uromodulin (the most abundant protein in urine).
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