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Published on: September 1, 2015
Vascular complications in autosomal dominant polycystic kidney disease
Ronald D Perrone1, Adel M Malek2, Terry Watnick3
1Department of Medicine, Division of Nephrology, Tufts Medical Center, 800 Washington Street, Boston, MA 02111, USA.
Insights
Autosomal dominant polycystic kidney disease (ADPKD) patients have a higher risk of intracranial aneurysms (IAs). This review focuses on screening, diagnosis, and treatment strategies for IAs in ADPKD patients.
Area of Science:
- Nephrology
- Vascular Surgery
- Genetics
Background:
- Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder.
- ADPKD is characterized by kidney enlargement and eventual renal failure.
- Patients with ADPKD have an increased prevalence of vascular abnormalities, notably intracranial aneurysms (IAs).
Purpose of the Study:
- To review screening, diagnosis, and treatment strategies for intracranial aneurysms (IAs) in patients with autosomal dominant polycystic kidney disease (ADPKD).
- To discuss the potential molecular mechanisms linking ADPKD genetics to IA formation.
- To provide guidance on managing vascular anomalies in ADPKD patients.
Main Methods:
- Literature review focusing on screening, diagnosis, and treatment of IAs in ADPKD.
- Analysis of data regarding the prevalence and risk factors for IAs in ADPKD.
- Discussion of the molecular basis of IA formation in the context of ADPKD genetics (PKD1, PKD2).
Main Results:
- Intracranial aneurysms (IAs) are found in approximately 10% of asymptomatic ADPKD patients and up to 25% of those with a family history of IA or subarachnoid hemorrhage.
- The molecular basis of IA formation may involve altered mechanotransduction and intracellular calcium signaling due to PKD1 and PKD2 gene mutations, exacerbated by hemodynamic conditions and hypertension.
- While other vascular anomalies occur, data are insufficient to recommend routine screening.
Conclusions:
- Screening, diagnosis, and treatment of IAs in ADPKD patients require careful consideration of individual risk factors.
- Management decisions for IAs should involve expert consultation and a thorough risk-benefit analysis.
- Further research is needed to fully elucidate the link between ADPKD and IA development and to establish optimal screening protocols for less common vascular issues.
Abstract:
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease. Relentless cyst growth substantially enlarges both kidneys and culminates in renal failure. Patients with ADPKD also have vascular abnormalities; intracranial aneurysms (IAs) are found in ∼10% of asymptomatic patients during screening and in up to 25% of those with a family history of IA or subarachnoid haemorrhage. As the genes responsible for ADPKD—PKD1 and PKD2—have complex integrative roles in mechanotransduction and intracellular calcium signalling, the molecular basis of IA formation might involve focal haemodynamic conditions exacerbated by hypertension and altered flow sensing. IA rupture results in substantial mortality, morbidity and poor long-term outcomes. In this Review, we focus mainly on strategies for screening, diagnosis and treatment of IAs in patients with ADPKD. Other vascular aneurysms and anomalies—including aneurysms of the aorta and coronary arteries, cervicocephalic and thoracic aortic dissections, aortic root dilatation and cerebral dolichoectasia—are less common in this population, and the available data are insufficient to recommend screening strategies. Treatment decisions should be made with expert consultation and be based on a risk-benefit analysis that takes into account aneurysm location and morphology as well as patient age and comorbidities.
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