PKD1-Associated Arachnoid Cysts in Autosomal Dominant Polycystic Kidney Disease

• Published in: Journal of stroke and cerebrovascular diseases Vol. 30; no. 9; p. 105943
• Main Authors: Shigemori, Kaori, Higashihara, Eiji, Itoh, Masayuki, Yoshida, Hiroki, Yamamoto, Kouji, Nutahara, Kikuo, Shiokawa, Yoshiaki, Kaname, Shinya, Tambo, Mitsuhiro, Yamaguchi, Tsuyoshi, Taguchi, Satoru, Yoshioka, Tatsuya, Yokoyama, Kenichi, Fukuhara, Hiroshi
• Format: Journal Article
• Language: English
• Published: Elsevier Inc 01.09.2021
• Subjects: Arachnoid cysts; Autosomal dominant polycystic kidney disease (ADPKD); Genotype; Intracranial aneurysms; Intracranial vascular event; Intracranial aneurysms; Genotype; Arachnoid cysts; Intracranial vascular event; Autosomal dominant polycystic kidney disease (ADPKD)
• ISSN: 1052-3057; 1532-8511
• DOI: 10.1016/j.jstrokecerebrovasdis.2021.105943

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. 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. 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. 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.