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
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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。
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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.
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