Clin Nephrol. 2021 Aug;96(2):105-111. doi: 10.5414/CN110334.
Moyamoya disease (MMD) is the most common underlying disease in Korean pediatric renovascular hypertension (RVH). The () p.R4810K variant is reported to be a pathologic variant in East Asian MMD. The purpose of this study was to evaluate hypertension (HTN) prevalence and clinical manifestations as well as p.R4810K variant prevalence in Korean pediatric MMD patients. The medical records of pediatric MMD patients from January 2000 to June 2018 were retrospectively reviewed. RVH was confirmed by computer tomography angiography or renal Doppler ultrasonography. The American Academy of Pediatrics 2017 guideline for sex-, age-, and height-related blood pressure standards was used to define HTN. Of 706 patients with MMD, 40 (5.7%) had HTN. Among these patients, 22 had RVH and 12 had HTN with no evidence of renal artery stenosis (non-RVH). Patients with MMD and RVH had an MMD onset at a younger age and lower body mass index compared to those with MMD and non-RVH. Among the patients with MMD and HTN, 4 presented with HTN before developing MMD. Genetic testing for the p.R4810K variant was performed in 32 patients with MMD and HTN. When the patient had a homozygous p.R4810K variant, the odds ratio of RVH to non-RVH was 8.3. Our study suggests that RVH is more prevalent than non-RVH in pediatric MMD patients. Furthermore, p.R4810K may be the cause of RVH in Korean children with MMD.
烟雾病（MMD）是韩国儿科肾血管性高血压（RVH）最常见的潜在疾病。据报道，（）p.R4810K 变异是东亚 MMD 的一种病理变异。本研究旨在评估韩国儿科 MMD 患者的高血压（HTN）患病率和临床表现以及 p.R4810K 变异的患病率。回顾性分析 2000 年 1 月至 2018 年 6 月期间儿科 MMD 患者的病历。通过计算机断层血管造影或肾多普勒超声检查确认 RVH。使用美国儿科学会 2017 年性别、年龄和身高相关血压标准指南来定义 HTN。在 706 例 MMD 患者中，有 40 例（5.7%）患有 HTN。在这些患者中，22 例有 RVH，12 例有 HTN 而无肾动脉狭窄（非 RVH）。与 MMD 和非 RVH 患者相比，MMD 和 RVH 患者的 MMD 发病年龄更小，体重指数更低。在 MMD 和 HTN 患者中，有 4 例在发生 MMD 之前出现 HTN。对 32 例 MMD 和 HTN 患者进行了 p.R4810K 变异的基因检测。当患者存在纯合 p.R4810K 变异时，RVH 与非 RVH 的比值比为 8.3。我们的研究表明，在儿科 MMD 患者中，RVH 比非 RVH 更为常见。此外，p.R4810K 可能是韩国 MMD 儿童 RVH 的病因。
