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©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Oct 26, 2020; 8(20): 4975-4980
Published online Oct 26, 2020. doi: 10.12998/wjcc.v8.i20.4975
Published online Oct 26, 2020. doi: 10.12998/wjcc.v8.i20.4975
New mutation in EPCAM for congenital tufting enteropathy: A case report
Yan-Qiong Zhou, Yuan-Mei Kong, Xiao-Yuan Zhang, Chun-Lin Wang, Department of Pediatrics, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310003, Zhejiang Province, China
Guo-Sheng Wu, Department of Colorectal and Anal Surgery, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310003, Zhejiang Province, China
Author contributions: Wu GS and Wang CL substantially contributed to conception or design; Zhou YQ, Kong YM, and Zhang XY contributed to acquisition, analysis, or interpretation of data; Zhou YQ drafted the manuscript; Kong YM and Zhang XY conducted the experiment; All authors have read and approved the final manuscript.
Supported by Key Research and Development Program of Zhejiang Province , China, No. 2020C03121.
Informed consent statement: The patient’s legal guardian has provided informed written consent prior to study enrollment.
Conflict-of-interest statement: The author(s) declared no conflicts of interests with regard to the research, authorship, and/or publication of this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Chun-Lin Wang, PhD, Chief Doctor, Department of Pediatrics, The First Affiliated Hospital, Zhejiang University School of Medicine, No. 79 Qingchun Road, Hangzhou 310003, Zhejiang Province, China. hzwangcl@zju.edu.cn
Received: June 12, 2020
Peer-review started: June 12, 2020
First decision: August 21, 2020
Revised: August 31, 2020
Accepted: September 10, 2020
Article in press: September 10, 2020
Published online: October 26, 2020
Processing time: 132 Days and 3.5 Hours
Peer-review started: June 12, 2020
First decision: August 21, 2020
Revised: August 31, 2020
Accepted: September 10, 2020
Article in press: September 10, 2020
Published online: October 26, 2020
Processing time: 132 Days and 3.5 Hours
Core Tip
Core Tip: Congenital tufting enteropathy (CTE) is a rare cause of congenital diarrheal disorders. Patients suffering from CTE are characterized by intractable watery diarrhea and severe malnutrition throughout their life. They depend on total parenteral nutrition to sustain their weight and eventually small intestine transplantation. We reported the case of an infant with severe watery diarrhea and failure to thrive who was subsequently found to have a new mutation in epithelial cell adhesion molecule gene (c.657+1[IVS6] G>A). Patients with CTE require rapid diagnosis and therapy to improve their survival.