polycystic kidney diseases
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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)
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)
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
