关于克拉贝病新生儿筛查的家庭态度：来自脑白质营养不良登记处的调查结果。
Family Attitudes regarding Newborn Screening for Krabbe Disease: Results from a Survey of Leukodystrophy Registries.
作者信息
Blackwell Karlita, Gelb Michael H, Grantham Anna, Spencer Natasha, Webb Christin, West Tara
机构信息
Parent Advocate & Consumer Representative, Saint Louis, MO 63021, USA.
Department of Chemistry, University of Washington, Seattle, WA 98195, USA.
出版信息
Int J Neonatal Screen. 2020 Aug 20;6(3):66. doi: 10.3390/ijns6030066.
Newborn screening (NBS) for Krabbe disease (KD) is currently underway in eight states in the USA, and there is continued discussion of whether to implement KD NBS in additional states. Workgroup members sought to survey a large number of families affected by KD. Families in KD and leukodystrophy family registries were contacted to seek their participation in . The 170 respondents are comprised of the following: 138 family members with a KD individual diagnosed after development of symptoms, 20 notified about KD via NBS, and 12 with a KD individual diagnosed through family history of KD. The key results are that all NBS families with an early-infantile KD family member elected to pursue hematopoietic stem cell transplantation therapy. Of the 170 responders, 165 supported the implementation of KD NBS in all states in the USA.
美国目前有八个州正在开展针对克拉伯病（KD）的新生儿筛查（NBS），关于是否在其他州实施KD新生儿筛查的讨论仍在继续。工作组成员试图对大量受KD影响的家庭进行调查。他们联系了KD和脑白质营养不良家庭登记处的家庭，寻求他们参与……。170名受访者包括以下几类：138名家庭成员，其家中的KD患者是在出现症状后被诊断出来的；20名通过新生儿筛查得知患有KD；12名其家中的KD患者是通过KD家族病史被诊断出来的。关键结果是，所有家中有早发性婴儿型KD患者的新生儿筛查家庭都选择了进行造血干细胞移植治疗。在170名受访者中，165人支持在美国所有州实施KD新生儿筛查。
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