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Polycystic kidney disease 2

Synonyms
POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE II; Polycystic Kidney Disease 2, Autosomal Dominant

Summary

Excerpted from the GeneReview: Polycystic Kidney Disease, Autosomal Dominant
Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset multisystem disorder characterized by bilateral kidney cysts, liver cysts, and an increased risk of intracranial aneurysms. Other manifestations include: cysts in the pancreas, seminal vesicles, and arachnoid membrane; dilatation of the aortic root and dissection of the thoracic aorta; mitral valve prolapse; and abdominal wall hernias. Kidney manifestations include early-onset hypertension, kidney pain, and kidney insufficiency. Approximately 50% of individuals with ADPKD have end-stage kidney disease (ESKD) by age 60 years. The prevalence of liver cysts increases with age and occasionally results in clinically significant severe polycystic liver disease (PLD), most often in females. Overall, the prevalence of intracranial aneurysms is fivefold higher than in the general population and further increased in those with a positive family history of aneurysms or subarachnoid hemorrhage. There is substantial variability in the severity of kidney disease and other extra-kidney manifestations.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Peter C Harris
Vicente E Torres
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Available tests

69 tests are in the database for this condition.

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Clinical tests (69 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: APKD2, PC2, PKD4, Pc-2, TRPP2, PKD2
    Summary: polycystin 2, transient receptor potential cation channel

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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