Folate Receptor Alpha Autoantibodies in Autism Spectrum Disorders: Diagnosis, Treatment and Prevention.
Folate Receptor Alpha Autoantibodies in Autism Spectrum Disorders: Diagnosis, Treatment and Prevention.
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DOI：
10.3390/jpm11080710
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发表时间：
2021-07-24
影响因子：
--
通讯作者：
Quadros EV
中科院分区：
文献类型：
--
作者：
Bobrowski-Khoury N;Ramaekers VT;Sequeira JM;Quadros EV
叶酸缺乏和叶酸受体自身免疫性疾病是不孕症、妊娠相关并发症和胎儿发育异常（包括大脑结构和功能异常）的主要原因。食物强化和产前叶酸补充剂降低了神经管缺陷（NTD）妊娠的发生率，但不太可能预防叶酸受体自身抗体（FRAb）存在下的妊娠相关并发症。在怀孕期间，这些自身抗体可以阻止叶酸转运到胎儿，在幼儿中，叶酸转运到大脑。这些抗体普遍存在于神经管缺陷妊娠和发育障碍，如脑叶酸缺乏症（CFD）综合征和自闭症谱系障碍（ASD）。在后一种情况下，亚叶酸治疗显示出一些核心ASD缺陷的临床改善。叶酸受体自身抗体的早期检测和干预可能会导致积极的结果。这篇综述讨论了第一次确定FRAb的妇女与神经管缺陷的历史，妊娠和FRAb的关联与生育力低下和早产。约70%的ASD患儿存在抗叶酸受体α（FRα）的自身抗体，这些患儿中有相当一部分对口服亚叶酸有反应，言语、语言和社会交往得到全面改善。通过测量血清中抗FRα的自身抗体诊断叶酸受体自身免疫性疾病，为治疗和预防叶酸受体自身免疫性疾病的病理后果提供了可能的标志物。
Folate deficiency and folate receptor autoimmune disorder are major contributors to infertility, pregnancy related complications and abnormal fetal development including structural and functional abnormalities of the brain. Food fortification and prenatal folic acid supplementation has reduced the incidence of neural tube defect (NTD) pregnancies but is unlikely to prevent pregnancy-related complications in the presence of folate receptor autoantibodies (FRAb). In pregnancy, these autoantibodies can block folate transport to the fetus and in young children, folate transport to the brain. These antibodies are prevalent in neural tube defect pregnancies and in developmental disorders such as cerebral folate deficiency (CFD) syndrome and autism spectrum disorder (ASD). In the latter conditions, folinic acid treatment has shown clinical improvement in some of the core ASD deficits. Early testing for folate receptor autoantibodies and intervention is likely to result in a positive outcome. This review discusses the first identification of FRAb in women with a history of neural tube defect pregnancy and FRAb’s association with sub-fertility and preterm birth. Autoantibodies against folate receptor alpha (FRα) are present in about 70% of the children with a diagnosis of ASD, and a significant number of these children respond to oral folinic acid with overall improvements in speech, language and social interaction. The diagnosis of folate receptor autoimmune disorder by measuring autoantibodies against FRα in the serum provides a marker with the potential for treatment and perhaps preventing the pathologic consequences of folate receptor autoimmune disorder.
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影响因子：
5.4
作者：
Fekete K;Berti C;Trovato M;Lohner S;Dullemeijer C;Souverein OW;Cetin I;Decsi T
通讯作者：
Decsi T
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作者：
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通讯作者：
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影响因子：
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作者：
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通讯作者：
Finnell, R. H.
影响因子：
11
作者：
Desai, A.;Sequeira, J. M.;Quadros, E. V.
通讯作者：
Quadros, E. V.
影响因子：
--
作者：
Hou, Zhanjun;Matherly, Larry H.
通讯作者：
Matherly, Larry H.