新生儿G6PD缺乏和哈里劳变异:宫内溶血和胎粪吸入综合征。

Kleoniki I Athanasiadou, Maria Amarantidou, Eftychia Drogouti, Marina Economou, George Mitsiakos, Evgenia Papakonstantinou, Paraskevi Karagianni
{"title":"新生儿G6PD缺乏和哈里劳变异:宫内溶血和胎粪吸入综合征。","authors":"Kleoniki I Athanasiadou,&nbsp;Maria Amarantidou,&nbsp;Eftychia Drogouti,&nbsp;Marina Economou,&nbsp;George Mitsiakos,&nbsp;Evgenia Papakonstantinou,&nbsp;Paraskevi Karagianni","doi":"10.34763/jmotherandchild.20212501.d-20-00021","DOIUrl":null,"url":null,"abstract":"<p><p>G6PD deficiency is one of the most commonly inherited enzymopathies with a hallmark of an X-linked pattern. G6PD has more than 300 unique variants with different enzyme activity. The G6PD Mediterranean variant is prevalent in Greece and associated with asymptomatic patients who may experience haemolysis under specific circumstances. G6PD Harilaou is a new variant that was first described in Greece in an eight-year-old boy who suffered chronic haemolysis demanding multiple transfusions. We present a new case of the G6PD Harilaou variant in a Greek male neonate who suffered severe intrauterine haemolysis and passed away 39 hours after birth. To our knowledge, it is the second reported G6PD Harilaou case.</p>","PeriodicalId":73842,"journal":{"name":"Journal of mother and child","volume":"25 1","pages":"61-64"},"PeriodicalIF":0.0000,"publicationDate":"2021-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8603846/pdf/","citationCount":"0","resultStr":"{\"title\":\"G6PD deficiency and Harilaou variant in a newborn: Intrauterine haemolysis and meconium aspiration syndrome.\",\"authors\":\"Kleoniki I Athanasiadou,&nbsp;Maria Amarantidou,&nbsp;Eftychia Drogouti,&nbsp;Marina Economou,&nbsp;George Mitsiakos,&nbsp;Evgenia Papakonstantinou,&nbsp;Paraskevi Karagianni\",\"doi\":\"10.34763/jmotherandchild.20212501.d-20-00021\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>G6PD deficiency is one of the most commonly inherited enzymopathies with a hallmark of an X-linked pattern. G6PD has more than 300 unique variants with different enzyme activity. The G6PD Mediterranean variant is prevalent in Greece and associated with asymptomatic patients who may experience haemolysis under specific circumstances. G6PD Harilaou is a new variant that was first described in Greece in an eight-year-old boy who suffered chronic haemolysis demanding multiple transfusions. We present a new case of the G6PD Harilaou variant in a Greek male neonate who suffered severe intrauterine haemolysis and passed away 39 hours after birth. To our knowledge, it is the second reported G6PD Harilaou case.</p>\",\"PeriodicalId\":73842,\"journal\":{\"name\":\"Journal of mother and child\",\"volume\":\"25 1\",\"pages\":\"61-64\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2021-10-11\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8603846/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of mother and child\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.34763/jmotherandchild.20212501.d-20-00021\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of mother and child","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.34763/jmotherandchild.20212501.d-20-00021","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

摘要

G6PD缺乏症是最常见的遗传性酶病之一,具有x连锁模式的标志。G6PD有300多种具有不同酶活性的独特变体。G6PD地中海变体在希腊普遍存在,与在特定情况下可能出现溶血的无症状患者相关。G6PD Harilaou是一种新的变异,首次在希腊一名患有慢性溶血需要多次输血的8岁男孩身上发现。我们提出了一个新的病例G6PD哈里劳变异在希腊男性新生儿谁遭受严重的宫内溶血和出生后39小时去世。据我们所知,这是第二起G6PD哈里劳案。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

摘要图片

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
G6PD deficiency and Harilaou variant in a newborn: Intrauterine haemolysis and meconium aspiration syndrome.

G6PD deficiency is one of the most commonly inherited enzymopathies with a hallmark of an X-linked pattern. G6PD has more than 300 unique variants with different enzyme activity. The G6PD Mediterranean variant is prevalent in Greece and associated with asymptomatic patients who may experience haemolysis under specific circumstances. G6PD Harilaou is a new variant that was first described in Greece in an eight-year-old boy who suffered chronic haemolysis demanding multiple transfusions. We present a new case of the G6PD Harilaou variant in a Greek male neonate who suffered severe intrauterine haemolysis and passed away 39 hours after birth. To our knowledge, it is the second reported G6PD Harilaou case.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
CiteScore
1.30
自引率
0.00%
发文量
0
期刊最新文献
Childbirth Experiences and Challenges for Women with Sensory Disabilities: A Systematic Review of Delivery Methods and Healthcare Barriers. The Relationship between the Intrapartum Experience and the Risk of Postpartum Depression among Jordanian Women: A Cross-Sectional Study. Risk of Transmission of COVID-19 from the Mother to the Foetus: A Systematic Review. Case Report-Severe Hyponatremia at Birth in a Premature Infant. The Impact of Undetected Hyperglycaemia During Pregnancy on Maternal and Neonatal Outcomes.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1