杜氏肌营养不良症患儿的高频超声与剪切波弹性成像诊断研究现状及前景  

Current research status and prospect in diagnosis of children with Duchenne muscular dystrophy by high-frequency ultrasound and shear wave elasticity imaging

作　　者：强坤坤 罗红 Qiang Kunkun;Luo Hong(Department of Ultrasound,Key Laboratory of Birth Defects and Related Diseases of Women and Children(Sichuan University),Ministry of Education,West China Second University Hospital,Sichuan University,Chengdu 61004l,Sichuan Province,China)

机构地区：[1]四川大学华西第二医院超声科、出生缺陷与相关妇儿疾病教育部重点实验室,成都610041

出　　处：《中华妇幼临床医学杂志（电子版）》2023年第2期162-167,共6页Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition)

基　　金：成都市科技局重点研发支撑计划(2021-YF05-02096-SN)。

摘　　要：杜氏肌营养不良症(DMD)是一类自近端肌肉开始,累及远端肌肉的隐性、遗传性神经肌肉疾病。该病主要临床表现为肌无力、肌萎缩等,最终使机体完全丧失运动功能。超声是诊断该类疾病的重要手段,其中高频超声(HFU)能精准定位机体肌肉、肌腱及周围神经等浅表软组织结构,并能获得肌肉厚度、横切面积等参数,对诊断DMD具有较高敏感度。剪切波弹性成像(SWE)技术能实时、动态、定量评估肌肉硬度,进而评估DMD患儿肌肉机械特性变化特征。笔者拟对DMD患儿发病的病理生理机制、DMD患儿常规诊断方法、HFU及SWE技术在DMD患儿的应用现状及前景的最新研究进展进行阐述。Duchenne muscular dystrophy(DMD)is a recessive hereditary neuromuscular disease that involved sproximate muscles initially and progressing to distal muscles.The main clinical manifestations of DMD are muscle weakness,muscle atrophy,and eventually complete loss of exercise ability of children with DMD.Ultrasound is an important tool for diagnosing DMD,among which high-frequency ultrasound(HFU)can precisely locate superficial soft tissue structures such as muscles,tendons and peripheral nerves and can obtain parameters such as muscle thickness and cross-section area,which has a high sensitivity.Shear wave elastography(SWE)can quantitatively and dynamically evaluate muscle stiffness in real time and then evaluate changes of muscle mechanical properties in children with DMD.This article intends to elaborate the latest research progress of pathophysiological mechanism,routine clinical diagnosis methods,application status and prospect of HFU and SWE technologies in children with DMD.

关 键 词：肌营养不良 杜氏 遗传性肌肉萎缩障碍 透过性连锁式隐性遗传型态 肌营养不良蛋白基因 面高频超声 剪切波弹性成像 强弹性成像技术 儿童 

分 类 号：R746.2[医药卫生—神经病学与精神病学] R445.1[医药卫生—临床医学]