Polycystic kidney disease

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Polycystic kidney disease
Polycystic kidneys, gross pathology 20G0027 lores.jpg
Polycystic kidneys
Classification and external resources
Specialty Nephrology
ICD-10 Q61
ICD-9-CM 753.1
OMIM 173900
DiseasesDB 10262 10280
MedlinePlus 000502
eMedicine med/1862 ped/1846 radio/68 radio/69
Patient UK Polycystic kidney disease
MeSH D007690

Polycystic kidney disease (PKD or PCKD, also known as polycystic kidney syndrome) is a genetic disorder in which abnormal cysts develop and grow in the kidneys.[1] Cystic disorders can express themselves at any point, infancy, childhood, or adulthood.[2] The disease occurs in humans and some other animals. PKD is characterized by the presence of multiple cysts (hence, "polycystic") typically in both kidneys; however, 17% of cases initially present with observable disease in one kidney, with most cases progressing to bilateral disease in adulthood.[3]

Signs and symptoms[edit]

Signs and symptoms include abdominal pain, blood in the urine, and excessive urination.[4] Other symptoms include -pain in the back,headaches and cyst formation (renal and other organs).[5]


PKD1 and PKD2

Polycystic kidney disease is a blanket term for the two types of PKD, each having their own pathology and causes. The two types of PKD are autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD), which differ in their mode of genetic inheritance.[medical citation needed]

Autosomal dominant[edit]

CT scan showing autosomal dominant polycystic kidney disease

Autosomal dominant polycystic kidney disease (ADPKD) is the most common of all the inherited cystic kidney diseases[3][6][7] with an incidence of 1:500 live births.[3][7] Studies show that 10% of end-stage kidney disease (ESKD) patients being treated with dialysis in Europe and the U.S. were initially diagnosed and treated for ADPKD.[3]

There are three genetic mutations in the PKD-1, PKD-2, and PKD3 gene with similar phenotypical presentations. Gene PKD1 is located on chromosome 16 and codes for a protein involved in regulation of cell cycle and intracellular calcium transport in epithelial cells, and is responsible for 85% of the cases of ADPKD. A group of voltage-linked calcium channels are coded for by PKD2 on chromosome 4. PKD3 recently appeared in research papers as a postulated third gene.[3][6] Fewer than 10% of cases of ADPKD appear in non-ADPKD families.[medical citation needed] Cyst formation begins in utero from any point along the nephron, although fewer than 5% of nephrons are thought to be involved. As the cysts accumulate fluid, they enlarge, separate entirely from the nephron, compress the neighboring kidney parenchyma, and progressively compromise kidney function.[medical citation needed]

Autosomal recessive[edit]

Autosomal recessive polycystic kidney disease (ARPKD) (OMIM #263200) is the lesser common of the two types of PKD, with an incidence of 1:20,000 live births and is typically identified in the first few weeks after birth. Unfortunately, the kidneys are often underdeveloped resulting in a 30% death rate in newborns with ARPKD.[3]


Some indications are that both autosomal and recessive polycystic kidney disease cyst formation is tied to cilia-mediated signaling that is irregular. Further, the polycystin-1 and polycystin-2 proteins appear to be involved in both autosomal and recessive polycystic kidney disease due to defects in both proteins.[8] Both proteins have communication with calcium channel proteins this causes reduction in resting (intracellular) calcium and endoplasmic reticulum storage of calcium.[9]


ADPKD individuals might have a normal life; conversely, ADPKD can cause kidney dysfunction and can lead to kidney failure by the age of 40-60. ADPKD1 and ADPKD2 are very different, in that ADPKD2 is much milder.[10] Currently, there are no therapies proven effective to prevent the progression polycystic kidney disease (autosomal dominant).[11]


  1. ^ "polycystic kidney disease" at Dorland's Medical Dictionary
  2. ^ Cramer, Monica T.; Guay-Woodford – via ScienceDirect (Subscription may be required or content may be available in libraries.), Lisa M. (2015-07-01). "Cystic Kidney Disease: A Primer". Advances in Chronic Kidney Disease 22 (4): 297–305. doi:10.1053/j.ackd.2015.04.001. ISSN 1548-5609. PMID 26088074. 
  3. ^ a b c d e f Bisceglia M, Galliani CA, Senger C, Stallone C, Sessa A (2006). "Renal cystic diseases: a review". Advanced Anatomic Pathology (13): 26–56. PMID 16462154. 
  4. ^ "Polycystic kidney disease". MedlinePlus Medical Encyclopedia. Retrieved 2015-07-30. 
  5. ^ "Polycystic Kidney Disease". www.niddk.nih.gov. Retrieved 2015-07-31. 
  6. ^ a b Torres VE; Harris PC; Pirson Y (2007). "Autosomal dominant polycystic kidney disease". Lancet 369 (9569): 1287–301. doi:10.1016/S0140-6736(07)60601-1. PMID 17434405. 
  7. ^ a b Simons M; Walz G (2006). "Polycystic kidney disease: cell division with a c(l)ue?". Kidney International 70 (5): 854–864. doi:10.1038/sj.ki.5001534. PMID 16816842. 
  8. ^ Halvorson, Christian R; Bremmer, Matthew S; Jacobs, Stephen C (2010-06-24). "Polycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment". International Journal of Nephrology and Renovascular Disease 3: 69–83. ISSN 1178-7058. PMC 3108786. PMID 21694932. 
  9. ^ Johnson, Richard J.; Feehally, John; Floege, Jurgen (2014-09-05). Comprehensive Clinical Nephrology: Expert Consult - Online. Elsevier Health Sciences. ISBN 9780323242875. 
  10. ^ "Polycystic Kidney Disease: Practice Essentials, Background, Pathophysiology". 
  11. ^ "Which therapies are the most effective to prevent the progression of autosomal dominant polycystic kidney disease? | Cochrane". www.cochrane.org. Retrieved 2015-08-01. 

Further reading[edit]

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