中国大陆228例苯丙酮尿症患者的临床研究。

A clinical investigation of 228 patients with phenylketonuria in mainland China.

作者信息

Yanling Y, Qiang G, Zhixiang Z, Chunlan M, Lide W, Xiru W

机构信息

Department of Pediatrics, The First Hospital of Beijing Medical University, China.

出版信息

Southeast Asian J Trop Med Public Health. 1999;30 Suppl 2:58-60.

PMID:11400786

Abstract

Neonatal screening for phenylketonuria (PKU) in Mainland China was started late and is incomplete. At the present time, it only covers 1-2% of the whole nation. There are about 1,500-2,000 PKU patients born in China annually. In this study, 228 PKU patients who were followed in our hospital were reviewed. Only 19 (8.3%) patients were detected by neonatal screening. Two hundred and nine (91.7%) cases were defined by pediatricians at the age of 1 month to 22 years, among them 94.5% had mental retardation, 48.9% developed epilepsy, and 22.9% gave up the treatment because of financial difficulty and loss of confidence in recovery. To help all of the patients, the only feasible way is the popularization of nationwide screening.

摘要

中国大陆苯丙酮尿症（PKU）的新生儿筛查起步较晚且不完善。目前，其仅覆盖全国1%-2%的地区。中国每年约有1500-2000名苯丙酮尿症患者出生。在本研究中，对我院随访的228例苯丙酮尿症患者进行了回顾。仅19例（8.3%）患者通过新生儿筛查被检测出。209例（91.7%）病例由儿科医生在1个月至22岁时确诊，其中94.5%有智力障碍，48.9%发生癫痫，22.9%因经济困难和对康复失去信心而放弃治疗。为帮助所有患者，唯一可行的办法是在全国范围内普及筛查。