摘要
目的分析婴儿型糖原贮积病Ⅱ型（GSDⅡ）的临床特点及其转归，探讨其诊断策略。方法回顾性分析2005年1月至2012年12月上海儿童医学中心确诊的16例婴儿型GSDⅡ患儿的病史、首发症状、体征、生化检查结果及X线胸片、心电图、心脏超声等辅助检查结果，并对患儿的运动发育情况、生存情况等随访资料进行分析。结果16例婴儿型GSDⅡ患儿外周血酸性a-葡萄糖苷酶（GAA）活性明显低下或完全缺失，心脏超声检查发现患儿均合并有不同程度的心肌肥厚，左心室质量指数为161～616g／m2；患儿随访时均存在严重的肌力减退和肌张力低下，运动发育明显落后。15例患儿进行了肌酸磷酸激酶的检测，其中14例明显升高；15例患儿进行了丙氨酸转氨酶、天门冬氨酸转氨酶的检测，均明显升高；16例患儿首发症状年龄的中位数为3．6（2．0～6．8）个月，确诊时年龄6．5（3．8～9．3）个月。14例患儿已经死亡，死亡年龄9．0（4．7～18．7）个月。结论婴儿型GSDⅡ是一种致命性的疾病，进行性心肌肥厚以及肌力或肌张力减退是婴儿型GSDⅡ突出的表现，外周血GAA活性的检测是筛查婴儿型GSDⅡ的有效方法。
Objective To explore the clinical characteristics and prognosis of infantile-onset glycogen storage disease type Ⅱ （ GSD Ⅱ） in Chinese patients. Methods Sixteen children diagnosed as infantile-onset GSD Ⅱ in Shanghai Children＇s Medical Center during Jan 2005 to Dec 2012 were recruited. Their disease history, presenting symptom, physical signs, biochemical tests and examinations of electrocardiogram and echocardiography were analyzed retrospectively. Follow-up data on motor development and survival were also collected and analyzed retrospectively. Results 16 cases were diagnosed as infantile- onset GSD Ⅱ （10 males, 6 females）, in which the peripheral blood levels of acidic oL-glucosidase were remarkably low or completely absent. All of them were complicated with cardiac hypertrophy and left ventricular mass index was 161 -616 g/m2. Severe muscular weakness, hypotonia and development lag were found in all during the follow-up. Creatine kinase was detected in 15 patients and its level became significantly elevated in 14 of them. Alanine aminotransferase and aspartate aminotransferase were detected in 15 patients and their levels became significantly elevated in all of them. The median age was 3.6 （2. 0 - 6. 8） months at symptom onset and 6.5 （3.8 -9.3） months at diagnosis. And 14 of them died during the follow-up and the median age at death was 9. 0 （4. 7 - 18.7） months. Conclusions As a fatal disease, infantile-onset GSD I has the prominent clinical manifestations of progressive cardiac hypertrophy and muscular weakness or hypotonia. The clinical features and nature history of Chinese patients are similar as those reported in other countries. Detection of acidic a-glucosidase activity in peripheral blood is an effective way of screening for infantile-onset GSD Ⅱ.
出处
《中华医学杂志》
CAS
CSCD
北大核心
2013年第20期1567-1570,共4页
National Medical Journal of China
关键词
糖原贮积病Ⅱ型
症状和体征
病史记录
Glycogen storage disease type Ⅱ
Symptoms ＆ signs
Medical history taking
