Current status of newborn screening for Pompe disease in Japan.
Current status of newborn screening for Pompe disease in Japan.
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DOI：
10.1186/s13023-021-02146-z
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发表时间：
2021-12-18
影响因子：
3.7
通讯作者：
Nakamura K
中科院分区：
文献类型：
--
作者：
Sawada T;Kido J;Sugawara K;Momosaki K;Yoshida S;Kojima-Ishii K;Inoue T;Matsumoto S;Endo F;Ohga S;Hirose S;Nakamura K
庞贝病是一种由酸性 α-葡萄糖苷酶 (GAA) 缺乏引起的常染色体隐性遗传代谢性疾病。庞贝病表现为骨骼肌和心肌中溶酶体糖原的积累。我们于 2013 年 4 月至 2020 年 10 月在日本进行了庞贝氏病新生儿筛查 (NBS)，以确定 NBS 对庞贝氏病的可行性和实用性。在测量了 296,759 名新生儿的酶活性（其中 107 名接受了 GAA 分析）的新生儿中，我们发现一名患有婴儿期庞贝病 (IOPD) 的患者和七名患有潜在迟发性庞贝病 (LOPD) 的患者。我们确定了 34 名假缺陷个体和 65 名携带者或潜在携带者。 IOPD患者的发生频率与美国相似，但显着低于台湾。一名 IOPD 患者在出生后一个月内接受了早期酶替代治疗，然后出现了加重的症状，而那些潜在的 LOPD 患者在随访六年期间没有表现出任何症状。日本的 IOPD 发生率与美国相似，美国建议对庞贝病进行 NBS。这表明 NBS 治疗庞贝氏症在日本也可能有用。因此，应该在日本更广泛的地区使用。在线版本包含可在 10.1186/s13023-021-02146-z 获取的补充材料。
Pompe disease is an autosomal recessive inherited metabolic disorder caused by a deficiency of the acid α-glucosidase (GAA). Pompe disease manifests as an accumulation of lysosomal glycogen in the skeletal and heart muscle. We conducted newborn screening (NBS) for Pompe disease in Japan from April 2013 to October 2020 to determine the feasibility and utility of NBS for Pompe disease. From the 296,759 newborns whose enzyme activity was measured, 107 of which underwent GAA analysis, we found one patient with infantile-onset Pompe disease (IOPD) and seven with potential late-onset Pompe disease (LOPD). We identified 34 pseudodeficient individuals and 65 carriers or potential carriers. The frequency of patients with IOPD was similar to that in the United States, but significantly lower than that in Taiwan. One patient with IOPD underwent early enzyme replacement therapy within a month after birth before presenting exacerbated manifestations, whereas those with potential LOPD showed no manifestations during the follow-up period of six years. The frequency of IOPD in Japan was similar to that in the United States, where NBS for Pompe disease is recommended. This indicates that NBS for Pompe disease may also be useful in Japan. Therefore, it should be used over a wider region in Japan. The online version contains supplementary material available at 10.1186/s13023-021-02146-z.
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DOI：
10.1097/01.gim.0000218152.87434.f3
发表时间：
2006-05
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Kishnani PS;Steiner RD;Bali D;Berger K;Byrne BJ;Case LE;Crowley JF;Downs S;Howell RR;Kravitz RM;Mackey J;Marsden D;Martins AM;Millington DS;Nicolino M;O'Grady G;Patterson MC;Rapoport DM;Slonim A;Spencer CT;Tifft CJ;Watson MS
通讯作者：
Watson MS
影响因子：
14.9
作者：
Desmet FO;Hamroun D;Lalande M;Collod-Béroud G;Claustres M;Béroud C
通讯作者：
Béroud C
影响因子：
3.9
作者：
Nino, Monica Y.;in't Groen, Stijn L. M.;Pijnappel, W. M. Pim
通讯作者：
Pijnappel, W. M. Pim
影响因子：
5.3
作者：
Carrasco-Rozas, Ana;Fernandez-Simon, Esther;Uson, Mercedes
通讯作者：
Uson, Mercedes
影响因子：
3.8
作者：
Labrousse, Paul;Chien, Yin-Hsiu;Hwu, Wuh-Liang
通讯作者：
Hwu, Wuh-Liang