PKD1-Associated Arachnoid Cysts in Autosomal Dominant Polycystic Kidney Disease

作者：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 · 发表于：Journal of Stroke and Cerebrovascular Diseases · 年份：2021 · DOI：10.1016/j.jstrokecerebrovasdis.2021.105943 · 被引用次数：13 · 研究领域：Genetic and Kidney Cyst Diseases、Cerebrospinal fluid and hydrocephalus、Renal and related cancers

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 arachn...