Home > E. Pathology by systems > Urinary system > Kidneys > polycystic kidney diseases

polycystic kidney diseases

Friday 24 October 2003

Digital cases (Digital slides)

- HPC4 : autosomal dominant polycystic kidney disease (ADPKD)
- UI:763 : autosomal dominant polycystic kidney disease (ADPKD)

Classification

- autosomal dominant polycystic kidney disease (ADPKD)

  • mutations in PKD1 (MIM.601313) (16p13) (ADPKD1)
  • mutations in PKD2 (MIM.173910) (4q21-q23) (ADPKD2)
  • mutations in PKD3 (MIM.600666) (ADPKD3)

- autosomal recessive polycystic kidney disease (ARPKD)(mutation in the gene PKHD1 at 6p21.1-p12 encoding fibrocystin) (MIM.606702)

  • renal ARPKD
  • hepatic ARPKD
  • pancreatic ARPKD

Differential diagnosis

- multicystic renal dysplasia (MRD)

  • bilateral non-obstructive multicystic renal dysplasia (BNOMRD)

Videos

- Autosomal dominant polycystic kidney disease (ADPKD)

See also

- renal cysts (cystic kidneys)

  • renal simple cyst
  • oligocystic kidneys
  • multicystic kidneys (polycystic kidneys)
    • polycystic kidney diseases (PKDs)

Links

- Renal cystic disease (polycystic kidney at GFMER, Geneva

References

- Fischer E, Legue E, Doyen A, Nato F, Nicolas JF, Torres V, Yaniv M, Pontoglio M. Defective planar cell polarity in polycystic kidney disease. Nat Genet. 2006 Jan;38(1):21-3. PMID: #16341222#

- Wilson PD. Polycystic kidney disease. N Engl J Med. 2004 Jan 8;350(2):151-64. PMID: #14711914#

- Harris PC. Autosomal dominant polycystic kidney disease: clues to pathogenesis. Hum Mol Genet. 1999;8(10):1861-6. PMID: #10469838#

- Wilson PD. Polycystic kidney disease: new understanding in the pathogenesis. Int J Biochem Cell Biol. 2004 Oct;36(10):1868-73. PMID: #15203099#

Portfolio

  • ARPKD at 34 weeks
  • ARPKD at 34 weeks
  • ARPKD at 34 weeks
  • ARPKD kidney in a neonate (1 month)
  • ARPKD kidney in a neonate (1 month)
  • ARPKD kidney in a neonate (1 month)
  • ARPKD kidney in a neonate (1 month)