相位磁振造影偵測動脈血流之異常應用於法布瑞氏症心臟變異型之患者

法布瑞氏症是ㄧ種先天性聯遺傳疾病，患者體內醣脂質（大多為GL-3）堆積於溶小體進而引發器官功能障礙，也因此有各種器官變異型，其中，心臟變異型為前三高的致死原因之一，患者無法早期得知症狀之嚴重程度導致錯過治療黃金時機。儘管目前已可藉由新生基因篩檢確診法布瑞氏症，但無法於適當時機進行治療，法布瑞氏症因此仍大幅提高患者之死亡率。法布瑞氏症之發生率有逐漸增高的趨勢，許多基因變異陸續被認為是輕微的法布瑞氏症。早期的統計數字指出，約十一萬人有一人為法布瑞氏症患者，然而根據近期統計結果，台灣男性每八百七十五人就有一名為法布瑞氏症患者。於2015年台灣藥物銷售量統計，法布瑞氏症之基因治療藥物首度擠進前二十名，足可見法布瑞氏症之治療對於台灣醫療的重要性。目前，早期診斷法布瑞氏症之變異仍屬於研究階段，如何藉由非侵入式影像診斷發現心臟變異，進而提早對患者進行治療是所有研究人員之理想目標。根據法布瑞氏症之病例報告，許多心臟變異型患者於早期有心臟瓣膜、血流、心肌、血管壁結構變異，最後會漸轉為心肌肥大及心肌纖維化而導致死亡，先前的研究利用超音波應變率變化、對比劑磁振造影T1-mapping於法布瑞氏患者心肌發現區域或廣泛異常，然而，尚未有人應用磁振造影相位對比技術之血流偵測於法布瑞氏患者之早期診斷，磁振造影之相位對比技術早已廣泛應用於血流之偵測，且於許多疾病都可見其分析成果。根據我們的研究，初步使用磁振造影相位對比技術之血流偵測，其分析結果於三組（年輕控制組、年長控制組、法布瑞氏症患者）之相互比較有顯著差異，由這樣的結果可顯示磁振造影相位對比技術之血流偵測於早期診斷的初步應用價值。

關鍵字

法布瑞氏症；心臟變異型；相位對比磁共振影像；血流偵測

並列摘要

Fabry disease (FD) is an X chromosome-linked genetic disease, and would cause the lysosomal glycolipid accumulation so that leads to various organ dysfunctions. Of all the FD types, cardiac manifestation shows high mortality at the rank of top three. Actually, FD patients can be detected definitely by genetic test, but they can not notice the symptoms from mild organ defect. Therefore, the best time for specific therapy would be missed. The prevalence of FD is gradually increasing, because of raising amount of genetic defects are reported as mild FD. In previous study, the prevalence ratio of FD is 1:110,000, but in recent study of Taiwan, the male prevalence ratio is 1:875. The drug sale analysis data in 2015 in Taiwan indicates that FD genetic drug ranks into top twentieth at the first time. These present the importance of FD in Taiwan. Nowadays, the study of FD early detect in cardiac manifestation is still in preliminary stage, and the ultimate goal of studies is using non-invasive tool to find the best timing to accept therapy and assess the effect of therapy. According to previous clinical reports, there is valvular dysfunction or flow, vessel wall and myocardium abnormality happened in FD patients in early stage. Some studies indicate impaired regional or global myocardial function from strain imaging (Doppler ultrasound) and T1 mapping (MRI). However, there is no study that explores flow abnormality by MR phase contrast (PC) imaging. In this study, we find significant difference among three groups (young controls, senior controls, and FD) by using PC-MRI flow analysis. It apparently displays the potential of PC-MRI flow analysis for FD early detect in cardiac manifestation.

並列關鍵字

Fabry disease ； cardiac manifestation ； phase contrast imaging ； flow analysis

參考文獻

[1] Kint, J. A. (1970). Fabry's disease: alpha-galactosidase deficiency. Science, 167(3922), 1268-1269.

[3] Brady, R. O., & Schiffmann, R. (2000). Clinical features of and recent advances in therapy for Fabry disease. Jama, 284(21), 2771-2775.

[4] Scriver, C. R. (Ed.). (2001). The metabolic & molecular bases of inherited disease (Vol. 4). New York; Montreal: McGraw-Hill.

[6] Spada, M., Pagliardini, S., Yasuda, M., Tukel, T., Thiagarajan, G., Sakuraba, H., ... & Desnick, R. J. (2006). High incidence of later-onset Fabry disease revealed by newborn screening. The American Journal of Human Genetics, 79(1), 31-40.

[7] Takenaka, T., Teraguchi, H., Yoshida, A., Taguchi, S., Ninomiya, K., Umekita, Y., ... & Yoshimitsu, M. (2008). Terminal stage cardiac findings in patients with cardiac Fabry disease: an electrocardiographic, echocardiographic, and autopsy study. Journal of cardiology, 51(1), 50-59.

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相位磁振造影偵測動脈血流之異常應用於法布瑞氏症心臟變異型之患者

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