| Summary: | 碩士 === 國立臺灣大學 === 生醫電子與資訊學研究所 === 104 === 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.
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