守护逐渐失去力量的勇者:杜氏肌营养不良症的认知与筛查之路  

Guarding the fading warriors: understanding and screening for Duchenne muscular dystrophy

作　　者：洪冬洋 张志蕾 孙云[1] Hong Dongyang;Zhang Zhilei;Sun Yun(Genetic Medicine Center,Women's Hospital of Nanjing Medical University(Nanjing Women and Children's Healthcare Hospital),Nanjing 210004,China)

机构地区：[1]南京医科大学附属妇产医院(南京市妇幼保健院)遗传医学中心,南京210004

出　　处：《中华围产医学杂志》2024年第10期876-881,共6页Chinese Journal of Perinatal Medicine

基　　金：国家自然科学基金(82202065)。

摘　　要：杜氏肌营养不良症(Duchenne muscular dystrophy,DMD)是一种严重的神经肌肉遗传病,临床表现为进行性肌肉萎缩,患者多于20岁左右死于心力衰竭或呼吸衰竭。本文系统梳理了DMD的发现、病理研究、诊断及新生儿筛查的发展历程。自19世纪以来,查尔斯·贝尔、盖太诺·孔蒂、爱德华·梅里恩、纪尧姆·本杰明·阿曼德·杜兴和威廉·理查德·高尔斯等先驱者对DMD的发现和描述奠定了对该病认识的基础。20世纪80年代,分子生物学研究进一步揭示了DMD的病理机制,并明确了诊断方法。自20世纪70年代起,新生儿DMD筛查得到蓬勃发展,经历了肌酸激酶检测、肌型肌酸激酶同工酶检测和基因筛查等多个发展阶段。随着研究的深入,DMD早期筛查、诊断方案不断完善,并逐步在临床推广及应用。Duchenne muscular dystrophy(DMD)is a severe neuromuscular genetic disorder characterized by progressive muscle atrophy,with most patients succumbing to heart or respiratory failure around the age of 20.This article systematically reviews the discovery,pathological research,diagnosis,and development of newborn screening for DMD.Since the 19th century,pioneers such as Bell,Conte,Meryon,Duchenne,and Gowers have laid the foundation for understanding this disease through their discoveries and descriptions of DMD.In the 1980s,molecular biology research further elucidated the pathological mechanisms of DMD and established diagnostic methods.Since the 1970s,newborn screening for DMD has flourished,evolving through various stages including creatine kinase testing,muscle-type creatine kinase isoenzyme testing,and genetic screening.With ongoing research,early screening and diagnostic protocols for DMD have been continuously refined and gradually implemented in clinical practice.

关 键 词：杜氏肌营养不良症 病理 诊断 新生儿筛查 

分 类 号：R746.2[医药卫生—神经病学与精神病学]