Suppr超能文献

乳糜微粒滞留病:一种导致生长不良的罕见病因。

Chylomicron retention disease: a rare aetiology of failure to thrive.

机构信息

Section of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, The University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA

Department of Pathology, The University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.

出版信息

BMJ Case Rep. 2024 May 14;17(5):e256999. doi: 10.1136/bcr-2023-256999.

Abstract

The aetiology of failure to thrive (FTT) in children is broad, of which some conditions are extremely rare. It is important to consider these rarer conditions, especially in the setting of other concerning signs/symptoms or when there is no improvement with conventional treatment. In this case report we highlight such a rare condition-chylomicron retention disease (CRD) as an aetiology of FTT. CRD often presents with non-specific symptoms, resulting in delayed diagnosis which is established by genetic workup and histology from small intestinal biopsies. Despite being rare, CRD needs to be considered as one of the differential diagnoses after ruling out the more common causes of FTT.

摘要

儿童生长发育不良(FTT)的病因广泛,其中一些疾病极为罕见。考虑这些罕见疾病很重要,尤其是在存在其他相关体征/症状的情况下,或者常规治疗无效时。在本病例报告中,我们强调了一种罕见的疾病——乳糜微粒滞留病(CRD),它是 FTT 的病因之一。CRD 常表现为非特异性症状,导致诊断延迟,这可以通过遗传检查和小肠活检的组织学来确定。尽管罕见,但在排除 FTT 更常见的病因后,CRD 需要被视为鉴别诊断之一。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验