先天性无血蛋白血症伴甲状腺功能减退的早产新生儿:来自高血缘社区的第一例

IF 0.3 Q4 PEDIATRICS Journal of Child Science Pub Date : 2022-01-01 DOI:10.1055/s-0042-1757149
Manar Al-lawama, J. Albaramki, Arwa Kiswani, Sara Kussad, R. Odeh, E. Altamimi
{"title":"先天性无血蛋白血症伴甲状腺功能减退的早产新生儿:来自高血缘社区的第一例","authors":"Manar Al-lawama, J. Albaramki, Arwa Kiswani, Sara Kussad, R. Odeh, E. Altamimi","doi":"10.1055/s-0042-1757149","DOIUrl":null,"url":null,"abstract":"Analbuminemia is a rare autosomal recessive disease characterized by extremely low or zero levels of circulating serum albumin. The diagnosis is made by ruling out other causes of hypoalbuminemia and should be confirmed by gene mutation analysis. In this article, we describe the clinical findings of a preterm neonate born to a consanguineous family who presented with progressive lower limb edema at the age of 7 days and who was confirmed as having congenital analbuminemia by genetic testing (homozygous mutation ALB NP_000468.1: p. Val78CysfsTer2) and hypothyroidism. This is the first case of congenital analbuminemia to be reported from Jordan.","PeriodicalId":41283,"journal":{"name":"Journal of Child Science","volume":" ","pages":""},"PeriodicalIF":0.3000,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Congenital Analbuminemia Associated with Hypothyroidism in a Preterm Neonate: The First Case from a Highly Consanguineous Community\",\"authors\":\"Manar Al-lawama, J. Albaramki, Arwa Kiswani, Sara Kussad, R. Odeh, E. Altamimi\",\"doi\":\"10.1055/s-0042-1757149\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Analbuminemia is a rare autosomal recessive disease characterized by extremely low or zero levels of circulating serum albumin. The diagnosis is made by ruling out other causes of hypoalbuminemia and should be confirmed by gene mutation analysis. In this article, we describe the clinical findings of a preterm neonate born to a consanguineous family who presented with progressive lower limb edema at the age of 7 days and who was confirmed as having congenital analbuminemia by genetic testing (homozygous mutation ALB NP_000468.1: p. Val78CysfsTer2) and hypothyroidism. This is the first case of congenital analbuminemia to be reported from Jordan.\",\"PeriodicalId\":41283,\"journal\":{\"name\":\"Journal of Child Science\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":0.3000,\"publicationDate\":\"2022-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Child Science\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1055/s-0042-1757149\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Child Science","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1055/s-0042-1757149","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0

摘要

无白蛋白血症是一种罕见的常染色体隐性疾病,其特征是循环血清白蛋白水平极低或为零。诊断是通过排除低蛋白血症的其他原因而做出的,应该通过基因突变分析来确认。在这篇文章中,我们描述了一名出生于血亲家庭的早产儿的临床发现,该早产儿在7天大时出现进行性下肢水肿,并通过基因检测(纯合突变ALB NP_000468.1:p.Val78CysfsTer2)和甲状腺功能减退症确认为先天性无白蛋白血症。这是约旦报告的第一例先天性无白蛋白血症。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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
Congenital Analbuminemia Associated with Hypothyroidism in a Preterm Neonate: The First Case from a Highly Consanguineous Community
Analbuminemia is a rare autosomal recessive disease characterized by extremely low or zero levels of circulating serum albumin. The diagnosis is made by ruling out other causes of hypoalbuminemia and should be confirmed by gene mutation analysis. In this article, we describe the clinical findings of a preterm neonate born to a consanguineous family who presented with progressive lower limb edema at the age of 7 days and who was confirmed as having congenital analbuminemia by genetic testing (homozygous mutation ALB NP_000468.1: p. Val78CysfsTer2) and hypothyroidism. This is the first case of congenital analbuminemia to be reported from Jordan.
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
0.50
自引率
0.00%
发文量
19
期刊最新文献
Immune Changes in Infants of Preeclampsia Mothers: A Systematic Review of Literature Associations between Media Use and Executive Dysfunction among Preschool Children in Bangkok, Thailand A Computer-Based Early Intervention for Thai Preschool Children at Risk of Dyslexia: A Pre- and Postintervention Study Marriage and Marital Fidelity in Interparental Relationship: A View from Religious Perspective Genotoxic and Cytotoxic Effects of Dental Radiographic Modalities on Buccal Mucosal Cells in Children
×
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