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glomerular cysts

Thursday 13 May 2004

Associations

- glomerulocystic kidney disease (GCKD)

- early-onset autosomal dominant polycystic kidney disease (early-onset ADPKD)
- autosomal recessive polycystic kidney disease (ARPKD)
- renal dysplasia

- malformatives syndromes

  • Zellweger syndrome
  • Jeune syndrome
  • tuberous sclerosis
  • trsiomies: trisomy 13,trisomy 18, trisomy 21
  • Majewski-tyep short rib polydactyly syndrome
  • oro-facio-digital syndrome
  • brachymesomelia-renal syndrome

Etiology

- HNF1B mutations (HNF1B-glomerular cysts)

References

- Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. Edghill EL, Bingham C, Ellard S, Hattersley AT. J Med Genet. 2006 Jan;43(1):84-90. Epub 2005 Jun 1. PMID: 15930087