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Polycystic kidney disease
Other Resources UpToDate PubMed

Polycystic kidney disease

Contributors: Casey Silver MD, Catherine Moore MD, Abhijeet Waghray MD
Other Resources UpToDate PubMed


Polycystic kidney disease (PKD) is an autosomal dominant (or, less often, autosomal recessive) disorder characterized by numerous cysts in the kidneys, which may lead 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 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 around 30 years of 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 who have had aneurysms.

Children with autosomal recessive inheritance often manifest in the first decade of life and may develop progressive renal failure and hepatic fibrosis. The autosomal recessive trait is associated with mutations to the PKHD1 gene.

Treatment is supportive and focuses 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

28770003 – Polycystic kidney disease, infantile type
765330003 – Autosomal dominant polycystic kidney disease

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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 Reviewed:02/20/2019
Last Updated:01/20/2022
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Polycystic kidney disease
A medical illustration showing key findings of Polycystic kidney disease (Autosomal dominant) : Abdominal pain, Flank pain, Abdominal mass, Hematuria, Low back pain, Nephromegaly, BP increased
Imaging Studies image of Polycystic kidney disease - imageId=7911488. Click to open in gallery.  caption: '<span>Grayscale ultrasound image demonstrates enlarged right kidney with multiple cysts, some simple and others complex. The left kidney had a similar appearance.</span>'
Grayscale ultrasound image demonstrates enlarged right kidney with multiple cysts, some simple and others complex. The left kidney had a similar appearance.
Copyright © 2024 VisualDx®. All rights reserved.