【摘要】 目的 Danon病是一种因溶酶体相关膜蛋白(lysosome-associated membrane protein-2, LAMP-2)缺陷导致的溶酶体贮积病。本文总结男性Danon病患者的临床表现、实验室检查、影像学表现及基因检测的特征，以提高临床医师对该病的认识。方法 回顾性分析2008—2022年于北京协和医院就诊且经基因检测确诊为Danon病的8例男性患者，总结该病临床表现、基因型和预后。结果 8例患者中位发病年龄为12.0岁，87.5%(6/8)的患者存在心脏受累，主要为左心室肥厚，中位左心室后壁厚度为15.0 mm。心电图检查最常见的心律失常为预激综合征(85.7%,6/7),其他表现可有左心室肥大(中位SV1+RV5/RV6为4.10 mV)及T波倒置。2例患者心脏磁共振检查可见晚期延迟强化。62.5%(5/8)的患者出现不同程度的智力迟钝，25.0%(2/8)的患者出现肌力减退。8例患者中2例患者失访，6例患者随访时间为1～9年，中位随访时间为3.83年。随访期间4例患者死亡，中位死亡年龄为19.0岁，死亡原因为心力衰竭(3例)和植入式心脏除颤转复器无效的心律失常(1例)。结论 男性Danon病患者的典型表现为心肌受累、骨骼肌受累、智力减退和眼部表现等。更多还原

【Abstract】 Objective Danon disease is a lysosomal storage disease caused by mutations in the X-linked lysosome-associated membrane protein gene(LAMP2). We summarized the clinical manifestations, laboratory tests, imaging findings, and genotypes of male Danon disease patients so as to enhance clinical physicians′ understanding of the disease. Methods Eight male patients with defined LAMP-2 mutation in Peking Union Medical College Hospital between 2008 and 2022 were retrospectively analyzed. Their clinical manifestations, genotypes and prognosis were investigated. Results The median age of onset was 12.0 years, with palpitations, decreased activity tolerance, and syncope as the first manifestations. 87.5%(6/8) of the patients had cardiac involvement, and echocardiography demonstrated left ventricular hypertrophy(median left ventricular posterior wall thickness was 15.0 mm). The most common arrhythmia was Wolff-Parkinson-White syndrome(85.7%, 6/7). Other ECG manifestations were left ventricular hypertrophy(median SV1+RV5/RV6 was 4.10 mV) and deeply inverted T waves. Cardiac MRI showed late gadolinium enhancement in 2 patients. 62.5%(5/8) of the patients had mental retardation, and 25.0%(5/8) had muscle weakness. Out of 8 patients, 2 were lost in follow-up and 6 were followed up for 1-9 years. Over a median follow-up of 3.83 years, 4 patients died(median age of death was 19.0 years), and the causes of death were heart failure in 3 patients and aborted cardiac arrest in one patient. Conclusion Typical manifestations of male Danon disease include myocardial involvement, skeletal muscle involvement, mental retardation, and ocular manifestations.更多还原