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中国家庭中青少年发病的成年型糖尿病4型家系的首例病例报告。

First Case Report of Maturity-Onset Diabetes of the Young Type 4 Pedigree in a Chinese Family.

作者信息

Deng Mingqun, Xiao Xinhua, Zhou Liyuan, Wang Tong

机构信息

Key Laboratory of Endocrinology, Department of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Diabetes Research Center of Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.

出版信息

Front Endocrinol (Lausanne). 2019 Jul 3;10:406. doi: 10.3389/fendo.2019.00406. eCollection 2019.

DOI:10.3389/fendo.2019.00406
PMID:31333579
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6618295/
Abstract

Maturity-onset diabetes of the young (MODY) is the most common monogenetic diabetes, which is easily misdiagnosed. We describe the first Chinese MODY4 family with a novel mutation, indicating that MODY4 cannot be excluded in early-onset obese diabetes, and pancreatic exocrine dysfunction could be present in MODY4.

摘要

青少年发病的成年型糖尿病（MODY）是最常见的单基因糖尿病，很容易被误诊。我们描述了首个携带新突变的中国MODY4家系，表明在早发肥胖型糖尿病中不能排除MODY4，且MODY4可能存在胰腺外分泌功能障碍。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3870/6618295/3ce5a73d358a/fendo-10-00406-g0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3870/6618295/dade873d7748/fendo-10-00406-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3870/6618295/4235b4f00b9e/fendo-10-00406-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3870/6618295/3ce5a73d358a/fendo-10-00406-g0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3870/6618295/dade873d7748/fendo-10-00406-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3870/6618295/4235b4f00b9e/fendo-10-00406-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3870/6618295/3ce5a73d358a/fendo-10-00406-g0003.jpg

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Front Mol Biosci. 2022 Dec 15;9:1091757. doi: 10.3389/fmolb.2022.1091757. eCollection 2022.
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