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.

Renal Failure
|November 16, 2023
PubMed

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.

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