Kidney Week

Abstract: FR-PO307

Cerebrovascular Phenotype and Genotype Correlation in ADPKD: A Study in HOPE-PKD

Session Information

• Cystic Kidney Diseases - II
  November 03, 2017 | Location: Hall H, Morial Convention Center
  Abstract Time: 10:00 AM - 10:00 AM

Category: Genetic Diseases of the Kidney

• 801 Cystic Kidney Diseases

Authors

• Kim, Hyun suk, Seoul National University Hospital, JongNo-Gu, SEOUL, Korea (the Republic of)

Hyun suk Kim,

• Ryu, Hyunjin, Seoul National University Hospital, JongNo-Gu, SEOUL, Korea (the Republic of)

Hyunjin Ryu,

• Lee, Chung, Samsung Genome Institute, Seoul, Korea (the Republic of)

Chung Lee,

• Heo, Jongho, JW LEE Center for Global Medicine, Seoul, Korea (the Republic of)

Jongho Heo,

• Ahn, Curie, Seoul National University Hospital, JongNo-Gu, SEOUL, Korea (the Republic of)

Curie Ahn,

• Oh, Yun Kyu, Department of Internal Medicine, Boramae Medical Center, Seoul, Korea (the Republic of)

Yun Kyu Oh,

Background

Cerebral aneurysm occurs in ADPKD (autosomal dominant polycystic kidney disease) by about 20% in the subjects older that 60years. The current study aimed to define phenotype characteristics of aneurysm, confirm the familial clustering effect and analyze the genetic differences in aneurysm vs. no aneurysm subjects in ADPKD.

Methods

Patients registered at the HOPE PKD cohort from October, 2009 to October, 2016 were included. Presence or absence of cerebral aneurysm and renal progression was reviewed, and PKD1/2 gene screening by targeted exome sequencing was performed. According to the presence or absence of cerebral aneurysm, the familial clustering effect was investigated and the proportions of PKD1 protein truncating (PT) mutations, PKD1 non-truncating (NT) mutations, PKD2, and no candidates (NC) were analyzed.

Results

A total of 398 families (n=538) were divided into aneurysm (n=131) or no-aneurysm group (n=407). In the aneurysm group, males were less prevalent (36.6 % vs. 49.9%, P=.010) and the mean age was significantly older (56.4 years vs. 50.2 years, P<.001). Similarly, females were prone to SAH events or intervention (n=21(72.4%)). The proportion of high risk group (Mayo classification 1C, 1D, and 1E) or ESRD, the median [IQR] of height adjusted kidney or liver were not different in age, and sex adjusted model. The family clustering effect adjusted for age and sex was significant in multilevel logistic regression model (P=0.012), However, the prevalence of genes (PT, NT, PKD2, NC) was not correlated with aneurysm. Four years later, aneurysm occurred in 16.1% (31/192, median follow up, 5.3 year) of the people who had not had it. The transmembrane domain was less related to occurrence of aneurysm.

Conclusion

Brain MRA is recommended at least every 4 years; every 3 years preferred for subjects with no aneurysm. The effect of PKD 1/2 gene type was not observed.