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Polycystic kidney disease

Last updated: July 19, 2023

Summarytoggle arrow icon

Polycystic kidney disease (PKD) is an inherited disorder characterized by the development of multiple cysts in the kidneys. It is classified into two distinct disorders: autosomal recessive PKD (ARPKD) and autosomal dominant PKD (ADPKD). ARPKD manifests with severe pulmonary insufficiency and progressive renal failure with onset during infancy or early childhood. If left untreated, ARPKD is typically lethal before adolescence. ADPKD manifests with flank pain, arterial hypertension, and progressive kidney disease with onset in adulthood. Early diagnosis and treatment may prevent or delay end-stage renal disease in both conditions, but kidney transplantation is the only curative treatment option.

Epidemiologytoggle arrow icon

Epidemiological data refers to the US, unless otherwise specified.

Etiologytoggle arrow icon

Pathophysiologytoggle arrow icon

ADPKD

ARPKD

Clinical featurestoggle arrow icon

ADPKD

ARPKD

Diagnosticstoggle arrow icon

Imaging

Further diagnostic tests

Pathologytoggle arrow icon

Differential diagnosestoggle arrow icon

Renal cysts

Acquired cystic kidney disease

Multicystic dysplastic kidneys

Autosomal dominant tubulointerstitial kidney disease (ADTKD) [17]

Medullary sponge kidney

Nephronophthisis (NPHP)

Obstructive cystic dysplasia

Von Hippel–Lindau disease

The differential diagnoses listed here are not exhaustive.

Treatmenttoggle arrow icon

Prognosistoggle arrow icon

Referencestoggle arrow icon

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  15. GHR - PKHD1 gene. https://ghr.nlm.nih.gov/gene/PKHD1. Updated: December 10, 2019. Accessed: January 2, 2020.
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