Sun Yu-Qing, Lv Qiang, Chen Dong, Da Yuwei, Zhao Xiao-Yan, Dong Jian-Zeng
Department of Cardiology, Beijing Anzhen Hospital, Capital Medical University, Beijing Institute of Heart Lung & Blood Vessel Diseases, Beijing, People's Republic of China.
Department of Pathology, Beijing Anzhen Hospital, Capital Medical University, Beijing Institute of Heart Lung & Blood Vessel Diseases, Beijing, People's Republic of China.
Pharmgenomics Pers Med. 2023 Aug 17;16:767-775. doi: 10.2147/PGPM.S392800. eCollection 2023.
The clinical manifestations of Danon disease, which result from the primary deficiency of the lysosome-associated membrane protein 2 gene, include cardiomyopathy, skeletal myopathy, and different degrees of intellectual disability that vary greatly among patients. The present study reports on two cases of Danon disease in two patients who only presented cardiac symptoms. Cardiac symptoms usually occur in adolescence and during a patient's twenties, and most patients die from heart failure. However, the lab results from these cases suggested that other systems were involved, despite no other clinical symptoms. Significantly, the two patients had elevated serum cardiac troponin I, which often manifests in the acute cardiac phase, especially in severely affected patients with rapidly fatal outcomes. Danon disease is a multi-system involvement disease. Therefore, clinicians must be aware of its complexity when evaluating newly diagnosed patients due to its vastly different clinical course and prognosis and the importance of multidisciplinary management.
丹侬病的临床表现源于溶酶体相关膜蛋白2基因的原发性缺陷，包括心肌病、骨骼肌病以及不同程度的智力残疾，患者之间差异很大。本研究报告了两名仅表现出心脏症状的丹侬病患者。心脏症状通常在青春期和患者二十多岁时出现，大多数患者死于心力衰竭。然而，这些病例的实验室结果表明，尽管没有其他临床症状，但其他系统也受到了影响。值得注意的是，这两名患者的血清心肌肌钙蛋白I升高，这在急性心脏期经常出现，尤其是在病情严重、预后迅速致命的患者中。丹侬病是一种多系统受累疾病。因此，临床医生在评估新诊断的患者时必须意识到其复杂性，因为其临床病程和预后差异很大，以及多学科管理的重要性。
