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Publication Name World Journal of Gastroenterology
Manuscript ID 105347
Country China
Category Gastroenterology & Hepatology
Manuscript Type Case Report
Article Title Protein-losing enteropathy and multiple vasculature dysplasia in LZTR1-related Noonan syndrome: A case report and review of literature
Manuscript Source Unsolicited Manuscript
All Author List Qiu-Ju Tian, Lu-Jia Zhang, Qun Zhang, Feng-Chao Liu, Man Xie, Jin-Zhen Cai and Wei Rao
Funding Agency and Grant Number
Funding Agency Grant Number
Shandong Provincial Natural Science Fundation of China ZR2023QH015
Qingdao Municipal Natural Science Fundation of China 23-2-1-134-zyyd-jch
Corresponding Author Wei Rao, MD, PhD, Professor, Division of Hepatology, Liver Disease Center, The Affiliated Hospital of Qingdao University, No. 59 Haier Road, Laoshan District, Qingdao 266100, Shandong Province, China. qdfy_raowei@qdu.edu.cn
Key Words Noonan syndrome; Leucine zipper-like transcription regulator 1; Protein-losing enteropathy; Porto-sinusoidal vascular disease; Hypoproteinemia; Intestinal lymphangiectasia; Case report
Core Tip Protein-losing enteropathy (PLE) is rarely reported with Noonan syndrome. This case reported a rare mutation in leucine zipper-like transcription regulator 1 related to Noonan syndrome, thoracic duct abnormalities, small intestinal lymphangiectasia, PLE in a juvenile female with multiple vasculature dysplasia and congenital deformity of the little finger, and the successful treatment of hypoalbuminemia by microsurgical relief of the thoracic duct outlet obstruction. As far as we know, this is the first case describing PLE associated with Noonan syndrome caused by a rare genetic mutation in leucine zipper-like transcription regulator 1 (c.850C>T:P.R284C) with newly reported manifestations. Additionally, this report provides new evidence about the management of Noonan syndrome.
Citation <p>Tian QJ, Zhang LJ, Zhang Q, Liu FC, Xie M, Cai JZ, Rao W. Protein-losing enteropathy and multiple vasculature dysplasia in LZTR1-related Noonan syndrome: A case report and review of literature. <i>World J Gastroenterol</i> 2025; 31(17): 105347</p>
Received
2025-01-27 08:16
Peer-Review Started
2025-01-27 08:18
To Make the First Decision
Return for Revision
2025-03-18 21:07
Revised
2025-03-31 18:53
Second Decision
2025-04-21 02:36
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief
2025-04-21 05:23
Articles in Press
2025-04-21 05:23
Publication Fee Transferred
2025-04-01 12:29
Edit the Manuscript by Language Editor
Typeset the Manuscript
2025-04-23 08:08
ISSN 1007-9327 (print) and 2219-2840 (online)
Open Access 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/
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