https://scholars.lib.ntu.edu.tw/handle/123456789/525061
標題: | The timely needs for infantile onset pompe disease newborn screening—practice in Taiwan | 作者: | Chiang S.-C. YIN-HSIU CHIEN Chang K.-L. NI-CHUNG LEE WUH-LIANG HWU |
公開日期: | 2020 | 出版社: | MDPI Multidisciplinary Digital Publishing Institute | 卷: | 6 | 期: | 2 | 起(迄)頁: | 30 | 來源出版物: | International Journal of Neonatal Screening | 摘要: | Pompe disease Newborn screening (NBS) aims at diagnosing patients with infantile-onset Pompe disease (IOPD) early enough so a timely treatment can be instituted. Since 2015, the National Taiwan University NBS Center has changed the method for Pompe disease NBS from fluorometric assay to tandem mass assay. From 2016 to 2019, 14 newborns were reported as high-risk for Pompe disease at a median age of 9 days (range 6–13), and 18 were with a borderline risk at a median age of 13 days (9–28). None of the borderline risks were IOPD patients. Among the 14 at a high-risk of Pompe disease, four were found to have cardiomyopathy, and six were classified as potential late-onset Pompe disease. The four classic IOPD newborns, three of the four having at least one allele of the cross-reactive immunologic material (CRIM)-positive variant, started enzyme replacement therapy (ERT) at a median age of 9 days (8–14). Western Blot analysis and whole gene sequencing confirmed the CRIM-positive status in all cases. Here, we focus on the patient without the known CRIM-positive variant. Doing ERT before knowing the CRIM status created a dilemma in the decision and was discussed in detail. Our Pompe disease screening and diagnostic program successfully detected and treated patients with IOPD in time. However, the timely exclusion of a CRIM-negative status, which is rare in the Chinese population, is still a challenging task. ? 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85087470307&doi=10.3390%2fijns6020030&partnerID=40&md5=7e4a74f0f134845b4844293b2a9c1ecb https://scholars.lib.ntu.edu.tw/handle/123456789/525061 |
ISSN: | 2409-515X | DOI: | 10.3390/ijns6020030 | SDG/關鍵字: | alanine aminotransferase; brain natriuretic peptide; creatine kinase; pro brain natriuretic peptide; unclassified drug; allele; Article; cardiomegaly; cardiomyopathy; case report; clinical article; creatine kinase blood level; echocardiography; electrocardiography; enzyme replacement; female; gene sequence; glycogen storage disease type 2; heart left ventricle hypertrophy; heart right ventricle hypertrophy; human; newborn; newborn screening; Taiwan; tandem mass spectrometry; thorax radiography; Western blotting |
顯示於: | 醫學系 |
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