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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

General

genetic disease of the kidney

Database Correlations

OMIM correlations

References

  1. OMIM :accession 137920
  2. OMIM :accession 609886