基于基因诊断以乳房发育的肯尼迪病1例报道并文献复习

Genetic Diagnosis of Kennedy Disease with Breast Development: A Case Report and Literature Review

摘要: 肯尼迪病(Kennedy disease, KD)，是以男性受累为主并且临床表现多为下运动神经元损伤的罕见病。该病早期临床表现多样但缺乏特异性易被误诊或者漏诊。本文通过报道1例“乳房异常发育伴进行性四肢无力12年”收住入院并且已完善基因检查诊断为KD患者，因目前KD治疗仍然缺乏特异性手段，故采取对症治疗缓解患者相关症状。本文患者经基因确诊前已经存在较长的时间且较为隐匿的临床表现，故结合文献复习，以供临床医师对该病早期发现、诊断以及治疗作为参考。

Abstract: Kennedy disease (KD), primarily affecting males and clinically characterized by damage to the lower motor neurons, is a rare condition. The early clinical manifestations of this disease are diverse but lack specificity, often leading to misdiagnosis or oversight. This article reports a case of a patient presenting with “progressive limb weakness for 12 years accompanied by abnormal breast development,” who was admitted and subsequently diagnosed as having KD through comprehensive genetic testing. As specific therapeutic interventions for KD are currently lacking, symptomatic treatment is employed to alleviate the patient’s associated symptoms. The patient in this study exhibited prolonged and subtle clinical manifestations prior to genetic confirmation, emphasizing the importance of early detection, diagnosis, and treatment of KD. This information is provided in the context of a literature review to serve as a reference for clinical practitioners.