Department of Pediatrics, Faculty of Medicine, Oita University, Yufu, Japan.
Department of Clinical Cell Biology and Medicine, Chiba University Graduate School of Medicine, Chiba, Japan.
J Hum Genet. 2017 Dec;62(12):1031-1035. doi: 10.1038/jhg.2017.90. Epub 2017 Sep 7.
Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare genetic disorder that shows a characteristic progeria phenotype. We conducted a questionnaire survey of 1173 tertiary hospitals in Japan and reviewed the academic reports, to identify the characteristics of Asian patients with classical HGPS. As a result, four Japanese patients were identified; this was estimated to account for approximately two-third of the prevalence in Japan. Three Asian patients who had definitively been diagnosed with classical HGPS were identified in the literature; in total, the clinical characteristics of seven patients were evaluated. Most of the clinical phenotypes of Asian patients were essentially similar to those of patients of other ethnicities, such as sclerodermatous skin, growth failure, loss of scalp hair or severe complications of cardiovascular and cerebral ischemic disease. In conclusion, to circumvent or minimalize severe vascular complication, an early diagnosis, careful observation and, promisingly, new intervention with farnesylation inhibitors may improve the prognosis of classical HGPS patients.
亨廷顿舞蹈病-吉福德早衰综合征（HGPS）是一种极其罕见的遗传疾病，表现出典型的早衰表型。我们对日本的 1173 家三级医院进行了问卷调查，并查阅了学术报告，以确定亚洲经典 HGPS 患者的特征。结果，发现了 4 名日本患者；这估计占日本患病率的约三分之二。在文献中还确定了 3 名亚洲患者被明确诊断为经典 HGPS；总共评估了 7 名患者的临床特征。亚洲患者的大多数临床表型与其他种族的患者基本相似，例如硬皮病样皮肤、生长发育不良、头皮毛发缺失或严重的心血管和脑缺血性疾病并发症。总之，为了避免或最小化严重的血管并发症，早期诊断、仔细观察以及有希望的法尼酰化抑制剂新干预可能会改善经典 HGPS 患者的预后。
