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제목	CEREBROVASCULAR PHENOTYPE AND GENOTYPE CORRELATION IN ADPKD PATIENTS: USING NEXT-GENERATION SEQUENCING STUDY IN KOREA
저자	Hyunsuk KIM1, Hayne c. PARK2, Hyunjin RYU6, Chung LEE3, Jongho HEO7, Sua SUNG4, Yun kyu OH5, *Curie AHN6
출판정보	2017; 2017(1):
키워드	Autosomal dominant polycystic kidney disease, cerebral aneurysm, Genetic variation, phenotype
초록	Objectives : Cerebral aneurysm occurs in ADPKD (autosomal dominant polycystic kidney disease) by about 10%. Even though the prevalence is relatively low, it is fatal extra-renal manifestation. Cerebral aneurysm is known to have familial clustering effect in ADPKD but studies were not well understood in Korean ADPKD. 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 ADPKD Clinic in Seoul National University Hospital from October, 2009 to October, 2016 were included. Clinical information regarding presence or absence of cerebral aneurysm and renal progression was retrospectively reviewed, and PKD1 and PKD2 gene screening with targeted exome sequencing using next-generation 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. Aneurysm group was defined as anyone who had cerebral aneurysm in brain MRAs or experienced subarachnoid hemorrhage (SAH). Results : A total of 399 families (n=547) were divided into no-aneurysm (n=416) and aneurysm group (n=131). Men were less prevalent in the aneurysm group (36.6 % vs. 49.8%, P=.009) and the mean age of aneurysm group was significantly older (50.1 years vs. 56.4 years, P<.001). Among aneurysm group, 16 patients (12.2%) got intervention and 12 were female and a total of 13 patients had experienced SAH and 9 were female. The proportion of high risk kidney group (Mayo classification 1C, 1D, and 1E) was not different (62.5% vs. 65.0%, P=.587). The familial clustering effect adjusted for age and sex was significant in multilevel logistic regression model (P=0.002), However, the prevalence of genes (PT, NT, PKD2, NC) was not significantly correlated with aneurysm and age was only significant (.05 [0.03, 0.086], P<.001). The sex effect for aneurysm had the trend to increase in female but, statistically not significant (P=0.055). Conclusions : The renal progression is not associated with aneurysm but familial clustering effect exists in aneurysm. Genetic testing of PKD1 and PKD2 is not helpful in predicting the prevalence of aneurysm in ADPKD. Because there is familial clustering effect in aneurysm, there may be unknown genetic effects or environmental factor in aneurysm. The prevalence in increased as age advances but he effect of female sex on aneurysm need to investigated further.
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