肯尼迪病诊断和管理中国专家共识2025

doi:10.3877/cma.j.issn.1673-9248.2026.03.002

肯尼迪病（KD）是一种罕见的X连锁隐性遗传性神经退行性疾病，该病虽然进展缓慢，但会导致肢体及延髓支配的肌肉无力、萎缩，最终使患者逐渐丧失行走能力，出现言语、吞咽和呼吸功能障碍。其中，误吸所致肺炎、呼吸衰竭或长期卧床所致压疮是KD患者死亡的主要原因。早期综合性治疗有助于延缓KD患者的病情进展，改善患者的生活质量。为规范和促进中国KD的诊疗，本共识综合近年来KD的诊断和治疗进展，对其临床表现、神经电生理特征、肌肉活检、基因检测、治疗和遗传干预进行阐述，供临床实践参考。

关键词: 肯尼迪病, 脊髓延髓肌萎缩症, 诊断, 治疗, 专家共识

Kennedy's disease (KD) is a rare X-linked recessive neurodegenerative disease. Although KD progresses slowly, it leads to weakness and atrophy of the limb and bulbar-innervated muscles, ultimately resulting in gradual loss of walking ability, as well as speech, swallowing, and respiratory function impairments. The primary causes of death in patients are pneumonia caused by aspiration, respiratory failure, or bedsore caused by long-term bed rest. Early comprehensive intervention may help delay disease progression and improve patients' quality of life. To standardize and promote the diagnosis and management of KD in China, this consensus summarizes recent progress in the understanding of its clinical manifestations, neurophysiological findings, muscle biopsy characteristics, genetic testing, treatment strategies, and genetic interventions for clinical reference.

Key words: Kennedy's disease, Spinal and bulbar muscular atrophy, Diagnosis, Treatment, Expert consensus

表1 肯尼迪病诊断和管理中国专家共识推荐意见分级及其意义

推荐意见分级	意义
Ⅰ级（一致推荐）	100%的专家投票≥4分
Ⅱ级（强推荐）	75%~99%的专家投票≥4分，且平均分＞4分
Ⅲ级（弱推荐）	≥50%的专家投票≥4分，但不能满足Ⅱ级推荐中的任一条件
Ⅳ级（专家未达成一致性结论）	＜50%的专家投票≥4分

表1 肯尼迪病诊断和管理中国专家共识推荐意见分级及其意义

推荐意见分级	意义
Ⅰ级（一致推荐）	100%的专家投票≥4分
Ⅱ级（强推荐）	75%~99%的专家投票≥4分，且平均分＞4分
Ⅲ级（弱推荐）	≥50%的专家投票≥4分，但不能满足Ⅱ级推荐中的任一条件
Ⅳ级（专家未达成一致性结论）	＜50%的专家投票≥4分

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Chinese expert consensus for diagnosis and treatment of Kennedy's disease 2025

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