Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.
Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.
复制标题
DOI：
10.1002/mgg3.1502
复制
发表时间：
2020-11
影响因子：
2
通讯作者：
Nakamura K
中科院分区：
文献类型：
--
作者：
Sawada T;Kido J;Sugawara K;Matsumoto S;Takada F;Tsuboi K;Ohtake A;Endo F;Nakamura K
在日本，2006年开始使用干血斑进行法布里病（FD）的新生儿和高风险筛查，FD是一种由GLA突变引起的遗传性X连锁疾病。在新生儿筛查方面，截至2018年12月，共筛查了599,711名新生儿，检测到来自54个家庭的57名新生儿携带26种FD相关变异。在高风险筛查中，截至2019年3月，筛查了18，235名有FD症状和/或家族史的个体，并检测到来自143个家庭的236名个体，其中101种FD相关变异。共检测到3116种变异;其中41种未在Fabry ‐ database.org或ClinVar中注册，33种明确为新变异。在此，我们报告的临床结果，并讨论了41个变异的致病性。我们追踪了9名新生儿和46名患有33种新变异的个体，以及9名新生儿和10名患有FD数据库中未登记的其他8种变异的个体，并分析了症状，治疗和结果的信息。在46名携带33种新变异的个体中，有38名出现症状，并接受了酶替代疗法和/或伴侣治疗。FD患者应避免延误诊断。我们的研究结果将有助于临床医生诊断FD，并确定对这些变异患者的适当治疗。追踪了9名新生儿和46名患有33种新变异的个体，以及9名新生儿和10名患有FD数据库中未登记的其他8种变异的个体，并分析了症状，治疗和结局的信息。在46名携带33种新变异的个体中，有38名出现症状，并接受了酶替代疗法和/或伴侣治疗。
In Japan, newborn and high‐risk screening for Fabry disease (FD), an inherited X‐linked disorder caused by GLA mutations, using dried blood spots was initiated in 2006. In newborn screening, 599,711 newborns were screened by December 2018, and 57 newborns from 54 families with 26 FD‐associated variants were detected. In high‐risk screening, 18,235 individuals who had symptoms and/or a family history of FD were screened by March 2019, and 236 individuals from 143 families with 101 FD‐associated variants were detected. Totally 3, 116 variants were detected; 41 of these were not registered in Fabry‐database.org or ClinVar and 33 were definitely novel. Herein, we report the clinical outcomes and discuss the pathogenicity of the 41 variants. We traced nine newborns and 46 individuals with the 33 novel variants, and nine newborns and 10 individuals with eight other variants not registered in the FD database, and analyzed the information on symptoms, treatments, and outcomes. Thirty‐eight of the 46 individuals with the 33 novel variants showed symptoms and received enzyme‐replacement therapy and/or chaperone treatment. Delayed diagnosis should be avoided in patients with FD. Our results will help clinicians diagnose FD and determine the appropriate treatment for patients with these variants. Nine newborns and 46 individuals with 33 novel variants, and nine newborns and 10 individuals with eight other variants not registered in the FD database were traced and the information on symptoms, treatments, and outcomes was analyzed. Thirty‐eight of 46 individuals with 33 novel variants had symptoms and received enzyme replacement therapy and/or chaperone treatment.
登录
查看更多内容
影响因子：
3.7
作者：
Arends M;Biegstraaten M;Hughes DA;Mehta A;Elliott PM;Oder D;Watkinson OT;Vaz FM;van Kuilenburg ABP;Wanner C;Hollak CEM
通讯作者：
Hollak CEM
影响因子：
4
作者：
Morrone, A;Cavicchi, C;Zammarchi, E
通讯作者：
Zammarchi, E
影响因子：
2.8
作者：
Turkmen, Kultigin;Guclu, Aydin;Ortiz, Alberto
通讯作者：
Ortiz, Alberto
影响因子：
1.9
作者：
Kobayashi, Masahisa;Ohashi, Toya;Iizuka, Sayoko;Kaneshiro, Eiko;Higuchi, Takashi;Eto, Yoshikatsu;Ida, Hiroyuki
通讯作者：
Ida, Hiroyuki
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