PKD1-Associated Arachnoid Cysts in Autosomal Dominant Polycystic Kidney Disease

Kaori Shigemori; Eiji Higashihara; Masayuki Itoh; Hiroki Yoshida; Kouji Yamamoto; Kikuo Nutahara; Yoshiaki Shiokawa; Shinya Kaname; Mitsuhiro Tambo; Tsuyoshi Yamaguchi; Satoru Taguchi; Tatsuya Yoshioka; Kenichi Yokoyama; Hiroshi Fukuhara

doi:10.1016/j.jstrokecerebrovasdis.2021.105943

PKD1-Associated Arachnoid Cysts in Autosomal Dominant Polycystic Kidney Disease

J Stroke Cerebrovasc Dis. 2021 Sep;30(9):105943. doi: 10.1016/j.jstrokecerebrovasdis.2021.105943. Epub 2021 Jun 25.

Affiliations

¹ Department of Urology, Kyorin University School of Medicine, 6-20-2 Shinkawa, Mitaka, Tokyo 181-8611, Japan.
² Department of Urology, Kyorin University School of Medicine, 6-20-2 Shinkawa, Mitaka, Tokyo 181-8611, Japan; Department of Hereditary Kidney Disease Research, Kyorin University School of Medicine, Tokyo, Japan. Electronic address: ehigashi@ks.kyorin-u.ac.jp.
³ Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
⁴ Department of Neurosurgery, Kyorin University School of Medicine, Tokyo, Japan.
⁵ Department of Biostatistics, Yokohama City University School of Medicine, Kanagawa, Japan.
⁶ Department of Nephrology and Rheumatology, Kyorin University School of Medicine, Tokyo, Japan.
⁷ Department of Radiology, Kyorin University School of Medicine, Tokyo, Japan.

PMID: 34175641
DOI: 10.1016/j.jstrokecerebrovasdis.2021.105943

Abstract

Objectives: the prevalence of intracranial aneurysms and arachnoid cysts is higher in patients with autosomal dominant polycystic kidney disease (ADPKD) than in the general population. A genotype correlation was reported for intracranial aneurysms, but it is unclear for arachnoid cysts. Therefore, the genotype correlation with intracranial aneurysms and arachnoid cysts was investigated in ADPKD.

Materials and methods: intracranial aneurysms and arachnoid cysts were screened by magnetic resonance imaging (MRI), and PKD genotypes were examined using next-generation sequencing for 169 patients with ADPKD.

Results: PKD1-, PKD2- and no-mutation were identified in 137, 24 and 8 patients, respectively. Intracranial aneurysms and arachnoid cysts were found in 34 and 25 patients, respectively, with no significant difference in frequency. Genotype, sex, estimated glomerular filtration rate and age at ADPKD diagnosis significantly affected the age at brain MRI. The proportional hazard risk analyzed using the age at brain MRI adjusted by these four variables was 5.0-times higher in the PKD1 group than in the PKD2 group for arachnoid cysts (P = 0.0357), but it was not different for intracranial aneurysms (P = 0.1605). Arachnoid cysts were diagnosed earlier in the PKD1 group than in the PKD2 group (54.8 vs 67.7 years, P = 0.0231), but no difference was found for intracranial aneurysms (P = 0.4738) by Kaplan-Meier analysis.

Conclusions: this study demonstrated the correlation between arachnoid cysts and PKD1 mutation. The reported association of arachnoid cysts with advanced renal disease may be due to the common correlation of these factors with PKD1 mutation.

Keywords: Arachnoid cysts; Autosomal dominant polycystic kidney disease (ADPKD); Genotype; Intracranial aneurysms; Intracranial vascular event.

MeSH terms

Adult
Aged
Arachnoid Cysts / diagnostic imaging
Arachnoid Cysts / genetics*
Cerebral Angiography
DNA Mutational Analysis
Female
Genetic Predisposition to Disease
High-Throughput Nucleotide Sequencing
Humans
Intracranial Aneurysm / diagnostic imaging
Intracranial Aneurysm / genetics*
Magnetic Resonance Angiography
Male
Middle Aged
Mutation*
Phenotype
Polycystic Kidney, Autosomal Dominant / complications
Polycystic Kidney, Autosomal Dominant / diagnosis
Polycystic Kidney, Autosomal Dominant / genetics*
Risk Assessment
Risk Factors
TRPP Cation Channels / genetics*

Substances

TRPP Cation Channels
polycystic kidney disease 1 protein
polycystic kidney disease 2 protein