Polycystic Kidney Disease
Basics
Description
- A group of monogenic disorders that results in renal cyst development
- Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD)
- ADPKD is one of the most common human genetic disorders.
Epidemiology
- ADPKD is generally late onset with end-stage kidney disease (ESKD) developing in older adults.
- ARPKD is usually present in infants.
Prevalence
As ESKD, ADPKD: 8.7/1 million in the United States; 7/1 million in Europe
Etiology and Pathophysiology
- ADPKD results from PKD1 and PKD2 mutations, which encode for polycystin 1 (PC1) and polycystin 2 (PC2). The disrupted polycystin function results in fluid-filled cysts that progressively increase in size, leading to gross enlargement of the kidney, and distortion of the renal architecture.
- ARPKD secondary to PKHD1 mutations
Genetics
- ADPKD: autosomal dominant inheritance
- PKD1 on chromosome 16p13.3 (85% of patients) encodes PC1.
- PKD2 on chromosome 4q21 (15% of patients) encodes PC2.
- ARPKD: autosomal recessive inheritance
- Gene PKHD1 on chromosome 6p21.1–p12 encodes fibrocystin.
Risk Factors
Family history
General Prevention
Genetic counseling
Commonly Associated Conditions
- ADPKD
- Cysts in other organs
- Polycystic liver disease in 58% of young age group to 94% of 45-year-olds
- Pancreatic (5%); seminal (40%); arachnoid (8%)
- Vascular manifestations
- Intracerebral aneurysms in 6% of patients without family history and in 16% with family history
- Aortic root dilation, dissections
- Cardiac manifestations:
- Mitral valve prolapse (25%); left Ventricular Hypertrophy
- Diverticular disease
- Cysts in other organs
- ARPKD: liver involvement: affected in inverse proportion to renal disease; congenital hepatic fibrosis with portal HTN
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Citation
Domino, Frank J., et al., editors. "Polycystic Kidney Disease." 5-Minute Clinical Consult, 33rd ed., Wolters Kluwer, 2025. Medicine Central, im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/117485/all/Polycystic_Kidney_Disease.
Polycystic Kidney Disease. In: Domino FJF, Baldor RAR, Golding JJ, et al, eds. 5-Minute Clinical Consult. Wolters Kluwer; 2025. https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/117485/all/Polycystic_Kidney_Disease. Accessed October 10, 2024.
Polycystic Kidney Disease. (2025). In Domino, F. J., Baldor, R. A., Golding, J., & Stephens, M. B. (Eds.), 5-Minute Clinical Consult (33rd ed.). Wolters Kluwer. https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/117485/all/Polycystic_Kidney_Disease
Polycystic Kidney Disease [Internet]. In: Domino FJF, Baldor RAR, Golding JJ, Stephens MBM, editors. 5-Minute Clinical Consult. Wolters Kluwer; 2025. [cited 2024 October 10]. Available from: https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/117485/all/Polycystic_Kidney_Disease.
* Article titles in AMA citation format should be in sentence-case
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T1 - Polycystic Kidney Disease
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ED - Golding,Jeremy,
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