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Polycystic kidney disease
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Polycystic kidney disease

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Contributors: Catherine Moore MD
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An autosomal dominant (or less often, autosomal recessive) disorder characterized by numerous cysts in the kidneys, leading to end-stage renal failure. The autosomal dominant trait is associated with mutations in either PKD1 (which encodes polycystin-1) or PKD2 (which encodes polycystin-2). A minority of patients with polycystic kidney disease (PKD) have a defect unrelated to PKD1 or PKD2. PKD1 mutations are more common and correlate with an earlier age of disease onset as well as more rapid decline in renal function.

Patients with autosomal dominant inheritance usually manifest symptoms at middle age; symptoms include abdominal pain, hematuria, and high blood pressure. Hypertension is very common and precedes the onset of overt renal dysfunction. Complications specific to renal cysts include cyst rupture, cyst infection, and nephrolithiasis.

Patients may develop brain aneurysms and liver cysts. Typically this has a strong familial pattern, and the risk of cerebral aneurysm in patients with PKD is highest in those who have family members with the same.

Patients with autosomal recessive inheritance present at a young age with progressive renal failure and hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6.

Treatment is supportive with main focus on blood pressure control, proteinuria management, and decreasing any other risks of kidney disease progression. No specific treatment has been shown to prevent or delay progression of renal dysfunction.


Q61.3 – Polycystic kidney, unspecified

28728008 – Polycystic kidney disease, adult type
28770003 – Polycystic kidney disease, infantile type

Differential Diagnosis & Pitfalls

  • Acquired cystic kidney disease – associated with chronic kidney disease, kidneys should be small to normal in size and there would be no family history of PKD
  • Multiple benign simple cysts (see renal cysts) – more common in adulthood
  • Localized cystic kidney disease
  • Medullary sponge kidney
  • Bilateral parapelvic cysts

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Last Updated: 06/28/2016
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Polycystic kidney disease
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Polycystic kidney disease : Abdominal pain, Flank pain, Hematuria, Low back pain, Gross hematuria, BP increased
Imaging Studies image of Polycystic kidney disease
Grayscale ultrasound image demonstrates enlarged right kidney with multiple cysts, some simple and others complex. The left kidney had a similar appearance.
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