glomerular cysts

Associations

 glomerulocystic kidney disease (GCKD)

• autosomal dominant hypoplastic glomerulocystic kidney disease (ADGCKD)((MIM.137920)

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

• multicystic dysplastic kidney
• peripheral cystic renal dysplasia associated with lower tract obstruction

 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