소아 모야모야병의 조기발병과 나쁜 예후의 예측인자로서 RNF213 R4810K 변이의 가치

초록

Purpose: Moyamoya disease (MMD) is a cerebrovascular disease characterized by progressive bilateral stenosis of internal carotid arteries. Recently some studies have shown that the RNF213 gene is associated with MMD susceptibility. Furthermore,there was a study to define the correlation between the RNF213 genotype and earlydisease onset as well as the severity of MMD. Thus, we aimed to demonstrate the relationship in Korean children.Methods: We reviewed retrospectively the medical record of 65 cases, who had an analysis data of the R4810K variant in the RNF213 gene, between September 2006 and March 2015 at the Department of Pediatrics and Pediatric neurosurgery, Seoul National University Children's Hospital. The correlation of RNF213 genotype and disease onset and severity were statistically analyzed. Results: R4810K variant was identified in 54 of 65 MMD cases (83.1%). Homozygotes represented a significantly earlier disease onset (median 2.6 years) than heterozygotes or wild types (median 5.7, and 7.6 years, respectively). Also, the rates of cases diagnosed with MMD before age 4 was higher in homozygotes compared with other types (75%, 33.3% and 18.2%, P=0.005). One of the poor prognostic factors, infarctions at initial presentation, were higher in homozygotes than in heterozygotes and wild types (75%, 45.2% and 18.2%, P=0.007) but the involvement of posterior cerebral arteries showed no significant differences among them. Conclusions:RNF213 variant is associated with early disease onset of MMD and poor prognostic factor in Korean children. Further studies and follow up are needed to determine the actual role of RNF213 mutation in MMD

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