Related Experiment Video

Updated: Nov 1, 2025

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
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Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium

Published on: September 1, 2015

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PKD1-Associated Arachnoid Cysts in Autosomal Dominant Polycystic Kidney Disease

Kaori Shigemori1, Eiji Higashihara2, Masayuki Itoh3

  • 1Department of Urology, Kyorin University School of Medicine, 6-20-2 Shinkawa, Mitaka, Tokyo 181-8611, Japan.

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association
|June 27, 2021
PubMed

Insights

Autosomal dominant polycystic kidney disease (ADPKD) patients with PKD1 mutations have a higher risk of developing arachnoid cysts. This study investigated the link between PKD genotypes and brain abnormalities in ADPKD.

Area of Science:

  • Neurology
  • Genetics
  • Nephrology

Background:

  • Autosomal dominant polycystic kidney disease (ADPKD) is associated with a higher prevalence of intracranial aneurysms and arachnoid cysts.
  • While a genotype correlation exists for intracranial aneurysms in ADPKD, its association with arachnoid cysts remains unclear.

Purpose of the Study:

  • To investigate the genotype correlation of intracranial aneurysms and arachnoid cysts in patients with autosomal dominant polycystic kidney disease (ADPKD).

Main Methods:

  • 169 ADPKD patients underwent magnetic resonance imaging (MRI) for screening of intracranial aneurysms and arachnoid cysts.
  • Next-generation sequencing was used to determine PKD genotypes (PKD1, PKD2, or no mutation).

Main Results:

  • Arachnoid cysts were diagnosed significantly earlier in patients with PKD1 mutations compared to PKD2 mutations (54.8 vs 67.7 years).
  • The proportional hazard risk for arachnoid cysts was 5.0 times higher in the PKD1 group than in the PKD2 group.
  • No significant difference in the frequency or diagnosis age of intracranial aneurysms was observed between PKD1 and PKD2 groups.

Conclusions:

  • A significant correlation exists between arachnoid cysts and PKD1 mutations in ADPKD patients.
  • The association of arachnoid cysts with advanced renal disease in ADPKD may be linked to the common correlation with PKD1 mutations.
Abstract

Keywords:
Arachnoid cystsAutosomal dominant polycystic kidney disease (ADPKD)GenotypeIntracranial aneurysmsIntracranial vascular event

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