新生儿筛查前后成年同型胱氨酸尿症患者的长期结局
Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening.
作者信息
Yamada Kenji, Yokoyama Kazunori, Aoki Kikumaro, Taketani Takeshi, Yamaguchi Seiji
机构信息
Department of Pediatrics, Shimane University Faculty of Medicine, 89-1, En-ya-cho, Izumo, Shimane 693-8501, Japan.
Secretariat of Special Formula, Aiiku Maternal and Child Health Center, Imperial Gift Foundation Boshi-Aiiku-Kai, 5-6-8, Minami Asabu, Minato-ku, Tokyo 106-8580, Japan.
出版信息
Int J Neonatal Screen. 2020 Jul 30;6(3):60. doi: 10.3390/ijns6030060.
BACKGROUND
Homocystinuria (HCU) is a rare inherited metabolic disease. In Japan, newborn screening (NBS) for HCU (cystathionine β-synthase deficiency) was initiated in 1977. We compared the outcomes between patients detected by NBS (NBS group) and clinically detected patients (non-NBS group).
METHODS
We administered questionnaires about clinical symptoms and social conditions to 16 attending physicians of 19 adult HCU patients treated with methionine-free formula.
RESULTS
Eighteen patients (nine patients each in the NBS and non-NBS groups) participated. The frequency of patients with ocular, vascular, central nervous system, and skeletal symptoms in the NBS group was lower than that in the non-NBS group. Intellectual disability was observed in one and eight patients in the NBS and non-NBS groups, respectively. Concerning their social conditions, all patients in the NBS group were employed or still attending school, while only two patients in the non-NBS group were employed. Three of the four patients who discontinued treatment presented some symptoms, even in the NBS group.
CONCLUSION
The social and intellectual outcomes of adult Japanese patients with HCU detected by NBS were favorable. However, even in the patients in the NBS group, some symptoms might not be preventable without continuous treatment.
背景
同型胱氨酸尿症（HCU）是一种罕见的遗传性代谢疾病。在日本，1977年开始对HCU（胱硫醚β合酶缺乏症）进行新生儿筛查（NBS）。我们比较了通过NBS检测出的患者（NBS组）和临床检测出的患者（非NBS组）的结局。
方法
我们向19例接受无蛋氨酸配方治疗的成年HCU患者的16位主治医生发放了关于临床症状和社会状况的问卷。
结果
18名患者（NBS组和非NBS组各9名患者）参与了调查。NBS组中出现眼部、血管、中枢神经系统和骨骼症状的患者频率低于非NBS组。NBS组和非NBS组分别有1名和8名患者存在智力障碍。关于他们的社会状况，NBS组的所有患者都有工作或仍在上学，而非NBS组只有2名患者有工作。在停止治疗的4名患者中，有3名出现了一些症状，即使在NBS组也是如此。
结论
通过NBS检测出的成年日本HCU患者的社会和智力结局良好。然而，即使在NBS组的患者中，如果不持续治疗，一些症状可能无法预防。
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