FaCD Online Syndrome Fact Sheet

Last updated: 26 May 2009

Name: Autosomal Dominant Polycystic Kidney Disease

Synonym: ADPKD

Mode of Inheritance: AD

Genes

PDK1, mapped to 16p13.3-p13.2
PDK2, mapped to 4q21-q23

Tumor features

renal cell cancer
renal cell cancer, clear-cell (Grawitz tumor)
renal cell cancer, papillary
renal cell cancer, sarcomatoid type

Non-tumor features

renal cysts

Comment

Autosomal dominant polycystic kidney disease (ADPKD) is characterized by gradual renal enlargement and cyst growth and loss of renal function.
Keith et al[1] reviewed 25 cases of renal cell carcinoma in patients with ADPKD. The age at diagnosis of the renal cancer was earlier than that seen in the general population (45 versus 61 yrs). Tumors were more often bilateral and/or multicentric and sarcomatoid in type than in the general population. After their review, several more cases have been reported[2-9]. In general though, renal cancer risk does not appear to be very high in ADPKD. According to Nishimura et al[9], the occurrence of RCC in patients with ADPKD can be explained by the increased incidence of RCC in any patient with advanced kidney disease, rather than an increased risk of RCC in patients with ADPKD.

References

[1] Keith DS, Torres VE, King BF, Zincki H, Farrow GM. Renal cell carcinoma in autosomal dominant polycystic kidney disease. Journal of the American Society of Nephrology : JASN 1994; 4(9):1661-9.
[2] Soderdahl DW, Thrasher JB, Hansberry KL. Bilateral renal cell carcinoma in autosomal dominant polycystic kidney disease. A case report and literature review. American journal of nephrology 1997; 17(1):96-9.
[3] Chang YL, Chung HJ, Chen KK. Bilateral renal cell carcinoma in a patient with autosomal dominant polycystic kidney disease. Journal of the Chinese Medical Association 2007; 70(9):403-5.
[4] Hama Y, Kaji T, Ito K, Hayakawa M, Tobe M, Kosuda S. Erythropoietin-producing renal cell carcinoma arising from autosomal dominant polycystic kidney disease. The British journal of radiology 2005; 78(927):269-71.
[5] Gatalica Z, Schwarting R, Petersen RO. Renal cell carcinoma in the presence of adult polycystic kidney disease. Urology 1994; 43(1):102-5.
[6] Lang EK, Davis R. Autosomal dominant polycystic disease with renal cell carcinoma. The Journal of urology 2005; 173(3):987.
[7] Jürgensen JS, Müller V, Kettritz U, Woywodt A, Göbel U, Luft FC. A malignant 'incidentaloma' in a patient with autosomal dominant polycystic kidney disease. Nephrology, dialysis, transplantation 1999; 14(2):490-2.
[8] Ritz E, Jones E, Waldherr R, Zeier M. The patient with ADPKD on maintenance hemodialysis. Contributions to nephrology 1995; 115():33-8.
[9] Nishimura H, Ubara Y, Nakamura M, Nakanishi S, Sawa N, Hoshino J, Suwabe T, Takemoto F, Nakagawa M, Takaichi K, Tomikawa S. Renal Cell Carcinoma in Autosomal Dominant Polycystic Kidney Disease. Am J Kidney Dis. 2009 May 14. [Epub ahead of print]