The diagnosis and treatment process of one clinical case of juvenile glycogen storage disease in current medical model in china

糖原累积病Ⅱ型又称Pompe病,是因酸性α-1,4-葡萄糖苷酶缺陷导致糖原分解障碍的一种先天代谢性肌病。该病的发病率为1/(4万~30万),临床上以肌肉组织受损为主要表现。根据发病年龄和进展速度的不同,可分为婴儿型、青少年型和成人型,后两者统称为晚发型。由于晚发型的症状多不典型,易与多种慢性肌病相混淆,甚至造成漏诊和误诊,因此临床上应引起高度的重视。目前,国内外对于该病尚缺乏有效的治疗方法,现对我院收治的1例青少年型GSD-Ⅱ患者的临床资料、康复干预并结合有关的国内外文献报告如下,以助临床医师在今后的工作中提高对此病的认识。同时,结合国内现行的医疗模式与制度,对此类遗传病的“防与治”做进一步思考。

Glycogen storage disease type Ⅱ, also known as Pompe disease (PD), is a kind of congenital metabolic myopathy, the cause of this disease is the barrier of glycogen disintegration due to the shortage of acid alpha-1,4-glucosidase enzyme. The prevalence of PD ranges between 1:40,000 and 1:300,000 and is dependent on ethnic and geographical factors. The main clinical manifestation of this myopathy is the injury of muscle organization. According to the difference in age and developmental speed, we can divide this disease into three types: the infantile type, the juvenile type and the adult type, and the latter two types are called the late onset type. Because the symptom of the late onset form is not typical, the mutual mixture of the late onset type and some chronic myopathy always takes place, which can even cause evade diagnosis and misdiagnosis, thus it is supposed to be highly focused on. At present, there is a shortage of effective therapeutic methods to cope with this myopathy all over the world. The following part is a report about the clinical data and the rehabilitation intervention of a patient who caught the juvenile type of GSD-Ⅱ, which is combined to home and abroad literatures, the purpose of this report is to help enhance clinical physicians’ cognition of this disease in the future therapy. At the same time, we combine with the current medical mode and system in China to reflect on the prevention and treatment of such diseases.