Case Series of Eight Congenital Tufting Enteropathy Patients and Literature Review.

IF 2.9 3区 医学 Q2 GENETICS & HEREDITY
Youhong Fang, Youyou Luo, Luojia Xu, Jindan Yu, Jie Chen
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引用次数: 0

Abstract

Congenital tufting enteropathy (CTE) is a rare autosomal recessive inherited disorder caused by mutations in the epithelial cell adhesion molecule (EpCAM) gene, characterized by severe diarrhea and growth failure. Between December 2017 and December 2023, eight patients diagnosed with CTE at our hospital were retrospectively analyzed for their clinical and genetic features, alongside a comprehensive literature review. All patients presented with severe malnutrition and growth failure upon admission. Parenteral nutrition (PN) with high caloric intake was required for all patients to achieve growth catch-up. A total of 142 patients with EpCAM mutations were reviewed, including 137 previously reported cases and five newly identified patients described in this study. Among the 114 CTE patients with detailed treatment information, 108 patients received PN therapy, with six patients successfully weaned off PN. Additionally, 19 patients underwent intestinal transplantation (IT). Outcome analysis revealed that 30 patients (27.3%) died, including five post-IT deaths. A total of 68 EpCAM mutations were identified, with most located in exon 3. The most frequently reported variant was c.499dup C. In this study, four novel mutations were detected in our patients. This study provides a comprehensive overview of the clinical and genetic characteristics of CTE, enhancing the understanding of its phenotype and genotype, particularly in Asian patients.

先天性绒毛状肠病8例病例分析及文献复习。
先天性簇状肠病(CTE)是一种罕见的常染色体隐性遗传病,由上皮细胞粘附分子(EpCAM)基因突变引起,以严重腹泻和生长衰竭为特征。在2017年12月至2023年12月期间,我们回顾性分析了8例在我院诊断为CTE的患者的临床和遗传特征,并进行了全面的文献综述。所有患者入院时均出现严重营养不良和生长衰竭。所有患者都需要高热量摄入的肠外营养(PN)来实现生长追赶。本研究共回顾了142例EpCAM突变患者,包括137例先前报道的病例和5例本研究中描述的新发现的患者。114例有详细治疗信息的CTE患者中,108例患者接受了PN治疗,6例患者成功戒除PN。此外,19例患者接受了肠移植(IT)。结果分析显示30例患者(27.3%)死亡,包括5例术后死亡。共鉴定出68个EpCAM突变,大多数位于外显子3。最常报道的变异是C. 499dup C.在本研究中,在我们的患者中检测到四种新的突变。本研究全面概述了CTE的临床和遗传特征,增强了对其表型和基因型的理解,特别是在亚洲患者中。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Clinical Genetics
Clinical Genetics 医学-遗传学
CiteScore
6.50
自引率
0.00%
发文量
175
审稿时长
3-8 weeks
期刊介绍: Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease
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