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Published on: June 23, 2015
Clinical findings, underlying pathogenetic processes and treatment of vascular dysfunction in autosomal dominant
Jinjun Zhu1, Fei Liu1, Jianhua Mao1
1Department of Nephrology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Insights
Autosomal dominant polycystic kidney disease (ADPKD) involves kidney cysts caused by PKD1 or PKD2 gene mutations. This review explores the mechanisms behind ADPKD-related vascular abnormalities and potential treatments.
Area of Science:
- Nephrology
- Genetics
- Vascular Biology
Background:
- Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder causing kidney cyst formation.
- Mutations in PKD1 or PKD2 genes are the primary cause of ADPKD.
- ADPKD is associated with significant vascular abnormalities impacting blood vessel structure and function.
Purpose of the Study:
- To review the molecular and cellular mechanisms underlying vascular abnormalities in ADPKD.
- To explore potential therapeutic interventions for ADPKD-related vascular complications.
- To enhance understanding of ADPKD pathogenesis and its vascular sequelae.
Main Methods:
- Literature review of studies on ADPKD pathogenesis.
- Analysis of molecular pathways involved in cystogenesis and vascular remodeling.
- Synthesis of current research on ADPKD-associated vascular complications like hypertension and intracranial aneurysms.
Main Results:
- ADPKD progression involves complex molecular processes leading to vascular abnormalities.
- Vascular complications in ADPKD include hypertension, intracranial aneurysms, and atherosclerosis.
- Current understanding of these mechanisms is incomplete, limiting treatment options.
Conclusions:
- Further research into ADPKD's vascular mechanisms is crucial.
- Targeting these mechanisms may lead to novel therapeutic strategies for ADPKD.
- Improved understanding can guide the management of ADPKD patients with vascular complications.
Abstract:
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder characterized by the development of fluid-filled cysts in the kidneys. The primary cause of ADPKD is mutations in the PKD1 (polycystic kidney disease 1) or PKD2 (polycystic kidney disease 2) gene. Patients with ADPKD often develop a variety of vascular abnormalities, which have a major impact on the structure and function of the blood vessels and can lead to complications such as hypertension, intracranial aneurysm (ICAN), and atherosclerosis. The progression of ADPKD involves intricate molecular and cellular processes that lead to the development of these vascular abnormalities. Our understanding of these processes remains incomplete, and available treatment options are limited. The aim of this review is to delve into the underlying mechanisms of these vascular abnormalities and to explore potential interventions.
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