罗若兰,郭小梅,林 立.扩张型心肌病合并多囊性肾病、长QT综合征一例并文献复习[J].内科急危重症杂志,2015,21(3):
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| DOI： |
| 中文关键词: 扩张型心肌病 多囊性肾病 长QT综合征 基因 |
| 英文关键词:dilated cardiomyopathy polycystic kidney disease long QT syndrome gene |
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| 中文摘要: |
| 目的：提高对遗传性疾病的认识,对基因检测的重视,以利于及时诊治。方法：报道1例扩张型心肌病、多囊性肾病、长QT综合征同患的病例,并复习相关文献。结果：本例患者在心衰基本纠正后突发尖端扭转型室速,抢救过程中心电图提示长QT,其后基因监测结果提示LQT3型。结合其肾脏彩超及其既往史、家族史,发现患者患有三种单基因遗传性疾病。结论：同时患有扩张型心肌病、多囊性肾病及长QT综合征的病患少见,如能早期检测其基因发现其同时患有LQT3,可提前防治而避免此次患者所受病危的打击。 |
| 英文摘要: |
| Objective: To enhance the understanding of the genetic diseases and genetic detection so as to give early diagnosis and timely therapy. Method: We reported a case of individual with dilated cardiomyopathy, polycystic kidney disease and long QT syndrome, and reviewed the related literature. Results: After heart failure was cured, the patient suddenly suffered from torsade de pointes (TdP), and the electrocardiograms showed long QT during the rescue. Then the gene detection showed LQT3. In combination with the Color Doppler Imaging (CDI) of kidney, kidney function, familly history and her medical history, we found that she suffered from three single gene disorders at the same time. Conclusions: Dilated cardiomyopathy, polycystic kidney disease and long QT syndrome take place to the same patient at the same time is rarely reported. If the long QT syndrome can be found through gene detection earlier, the patient may avoid the TdP blow. |
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