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)

See also

 renal cysts (cystic kidneys)

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

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#