摘要
目的总结糖原累积症的临床特点,提高临床医师对该病的认识,减少误诊、误治。方法回顾在本院治疗的6例糖原累积症患儿的临床资料并结合相关文献进行分析。结果糖原累积症主要的首发症状为肝脏增大或体检发现肝功能异常,其他常见的临床表现为腹部膨隆、生长发育迟缓、鼻衄、反复呼吸道感染、低血糖、代谢性酸中毒等。所有患儿经口服生的玉米淀粉治疗,症状均明显好转。结论发现患儿肝肿大及肝功能异常,要警惕糖原累积症,临床确诊后要及早口服生玉米淀粉并坚持长期治疗。
Objective: To summary the clinic characteristic of glycogen storage disease elevate recognition and to decrease misdiagnosed and mistreatment of the glycogen storage disease. Methods : To review the clinical history of six cases glycogen storage disease and to analyze clinical characteristic of glycogen storage disease combining with pertinent literature. Results : The first clinical manifestation of glycogen storage disease was hepatomegaly or disfunction of liver found in health examination and the other frequent clinical manifestation were abdominal bulge, abdominal bulge, epistaxis, epistaxis, respiratory infection, glyeopenia, metabolic acidosis, et al. All children were better after taking crude amylum maydis orally. Conclusions: Glycogen storage diseas must be concluded if the child was hepatomegaly or disfunction of liver. All the children with glycogen storage disease must take crude amylum maydis orally and insist on long term therapy.
出处
《中国优生与遗传杂志》
2013年第9期122-123,共2页
Chinese Journal of Birth Health & Heredity
关键词
糖原累积症
诊断
治疗
Glycogen storage disease
Diagnose
Treatment