glomerulocystic kidney disease

Pathology

• can be associated with either hypoplastic or normal sized kidneys
• hypoplastic variant
  • absence of renal papillae
  • early stable chronic renal failure
• cystic dilatation of Bowman's space & a collapse of glomerular tuft

Genetics

• hypoplastic variant associated with defects in HNF1B
• variant associated with defect in UMOD

Laboratory

• serum uric acid:
  • hyperuricemia in variant associated with defect in UMOD due to low fractional excretion of uric acid & severe impairment of urine concentrating ability
• urine osmolality may be low

Differential diagnosis

• familial juvenile hyperuricemic nephropathy
• medullary cystic disease 2

More general terms

• genetic disease of the kidney

Database

• OMIM: https://mirror.omim.org/entry/137920
• OMIM: https://mirror.omim.org/entry/609886