Synopsis

 ADPKD in adults
 fetal ADPKD and neonatal ADPKD

• normal to enlarged kidneys
• round renal cysts
  • from microscopic to 3cm
  • unilateral or bilateral cysts
  • renal cortical cysts or renal medullary cysts
• from any part of the nephron

Etiology

 mutations in PKD1 encoding the transmembrane protein polycystin-1 (PC1)
 mutations in PKD2 encoding the transmembrane proteins polycystin-2 (PC2)

References

 Lina F, Satlinb LM. Polycystic kidney disease: the cilium as a common pathway in cystogenesis. Curr Opin Pediatr. 2004 Apr;16(2):171-6. PMID: #15021197#

 Cantiello HF. A tale of two tails: ciliary mechanotransduction in ADPKD. Trends Mol Med. 2003 Jun;9(6):234-6. PMID: #12829010#

 Pei Y. A "two-hit" model of cystogenesis in autosomal dominant polycystic kidney disease? Trends Mol Med. 2001 Apr;7(4):151-6. PMID: #11286938#