不能茁壮成长是浸入式Gräsbeck综合症的早期症状。

N M Wulffraat, J De Schryver, M Bruin, E Pinxteren-Nagler, P J van Dijken
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引用次数: 0

摘要

目的:Imerslund-Gräsbeck综合征(IGS)是一种罕见的遗传性疾病,以巨幼细胞性贫血为特征,这是由于选择性维生素B12吸收不良与轻度蛋白尿有关。通常以反复感染、胃肠道不适和面色苍白为主要症状。我们报告两例具有不寻常表现的IGS。患者和方法:描述了两个女孩与Imerslund-Gräsbeck综合征谁没有茁壮成长的表现症状,没有感染或胃肠道疾病。IGS的诊断基于明显的大细胞性贫血,血清维生素B12水平极低,希林尿排泄试验结果异常,轻度蛋白尿。当开始静脉注射维生素B12时,两个女孩都出现了快速的追赶生长。结论:缺乏众所周知的导致生长失败的原因,如复发性感染和胃肠道疾病,支持由孤立的钴胺素缺乏症引起的代谢紊乱的概念,如在IGS中所见,导致生长失败。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Failure to thrive is an early symptom of the imerslund Gräsbeck syndrome.

Purpose: The Imerslund-Gräsbeck syndrome (IGS) is a rare inherited disorder characterized by a megaloblastic anemia due to a selective vitamin B12 malabsorption in association with a mild proteinuria. Usually recurrent infections, gastrointestinal complaints, and pallor are presenting symptoms. We report two cases of IGS with an unusual presentation.

Patients and methods: Two girls are described with the Imerslund-Gräsbeck syndrome who had a failure to thrive as a presenting symptom without infections or gastrointestinal complaints. The diagnosis of IGS was based on marked macrocytic anemia, very low serum vitamin B12 levels, abnormal Schilling urinary excretion test results, and mild proteinuria. When parenteral vitamin B12 was started, a rapid catch-up growth was seen in both girls.

Conclusions: The absence of well-known causes of failure to thrive, such as recurrent infections and gastrointestinal complaints, favors the concept that the metabolic disturbances caused by an isolated cobalamin deficiency as seen in IGS causes a failure to thrive.

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