线粒体神经胃肠性脑肌病1例临床及肠道超声表现

Q4 Medicine

中国医学科学院学报 Pub Date : 2025-08-04 DOI:10.3881/j.issn.1000-503X.16801

Xiao-Yan Zhang, Qing-Li Zhu, Ge-Chong Ruan, Wen-Bo Li

引用次数: 0

摘要

线粒体神经胃肠性脑肌病（MNGIE）是一种罕见的由TYMP基因突变引起的线粒体疾病，其特征是严重的胃肠运动障碍、周围神经病变和脑白质营养不良。本文总结1例MNGIE病例的临床资料及肠道超声表现，旨在为临床诊断和治疗提供参考。

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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[Clinical and Intestinal Ultrasound Findings in Mitochondrial Neurogastrointestinal Encephalomyopathy:Report of One Case].

Mitochondrial neurogastrointestinal encephalomyopathy(MNGIE),a rare mitochondrial disorder caused by TYMP gene mutations,is characterized by severe gastrointestinal dysmotility,peripheral neuropathy,and leukodystrophy.This article summarizes the clinical data and intestinal ultrasound findings of a MNGIE case,aiming to provide insights for clinical diagnosis and treatment.

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来源期刊

中国医学科学院学报 Medicine-Medicine (all)

CiteScore

0.60

自引率

0.00%

发文量

6813

期刊介绍： Acta Academiae Medicinae Sinicae was founded in February 1979. It is a comprehensive medical academic journal published in China and abroad, supervised by the Ministry of Health of the People's Republic of China and sponsored by the Chinese Academy of Medical Sciences and Peking Union Medical College. The journal mainly reports the latest research results, work progress and dynamics in the fields of basic medicine, clinical medicine, pharmacy, preventive medicine, biomedicine, medical teaching and research, aiming to promote the exchange of medical information and improve the academic level of medicine. At present, the journal has been included in 10 famous foreign retrieval systems and their databases [Medline (PubMed online version), Elsevier, EMBASE, CA, WPRIM, ExtraMED, IC, JST, UPD and EBSCO-ASP]; and has been included in important domestic retrieval systems and databases [China Science Citation Database (Documentation and Information Center of the Chinese Academy of Sciences), China Core Journals Overview (Peking University Library), China Science and Technology Paper Statistical Source Database (China Science and Technology Core Journals) (China Institute of Scientific and Technological Information), China Science and Technology Journal Paper and Citation Database (China Institute of Scientific and Technological Information)].