胰岛素基因突变所致的永久性新生儿糖尿病误诊54年家系报道

报道一例55岁确诊的胰岛素基因（INS）杂合突变所致永久性新生儿糖尿病（PNDM）家系。先证者以“发现血糖升高54年，恶心、呕吐5 d”为主诉收入住院，结合临床资料及家族史拟诊为PNDM。收集先证者及其儿子的外周血进行全外显子高通量二代测序，先证者及其儿子在外显子区域检测到INS基因 c.G287A（p.C96Y）杂合突变。先证者予以强化胰岛素治疗，血糖控制较前稳定。本文结合文献探讨其临床特征、诊治要点，旨在提高临床对INS基因突变致PNDM患者的认识。...

Full description

Saved in:
Bibliographic Details
Published in中华糖尿病杂志 Vol. 13; no. 9; pp. 906 - 908
Main Authors 刘婕, 段倩雯, 彭慧芳, 曹慧芳, 马瑜瑾, 刘鹏, 付留俊, 李利平, 贾竹敏, 姜宏卫
Format Journal Article
LanguageChinese
Published 河南科技大学临床医学院　河南科技大学第一附属医院内分泌代谢科　洛阳市内分泌代谢病临床医学研究中心　河南省遗传罕见病医学重点实验室　471003 27.09.2021
Subjects
病程
并发症
胰岛素基因突变
糖尿病
婴儿，新生
Online AccessGet full text
ISSN1674-5809
DOI10.3760/cma.j.cn115791-20201213-00712

Cover

Abstract 报道一例55岁确诊的胰岛素基因（INS）杂合突变所致永久性新生儿糖尿病（PNDM）家系。先证者以“发现血糖升高54年，恶心、呕吐5 d”为主诉收入住院，结合临床资料及家族史拟诊为PNDM。收集先证者及其儿子的外周血进行全外显子高通量二代测序，先证者及其儿子在外显子区域检测到INS基因 c.G287A（p.C96Y）杂合突变。先证者予以强化胰岛素治疗，血糖控制较前稳定。本文结合文献探讨其临床特征、诊治要点，旨在提高临床对INS基因突变致PNDM患者的认识。
AbstractList 报道一例55岁确诊的胰岛素基因（INS）杂合突变所致永久性新生儿糖尿病（PNDM）家系。先证者以“发现血糖升高54年，恶心、呕吐5 d”为主诉收入住院，结合临床资料及家族史拟诊为PNDM。收集先证者及其儿子的外周血进行全外显子高通量二代测序，先证者及其儿子在外显子区域检测到INS基因 c.G287A（p.C96Y）杂合突变。先证者予以强化胰岛素治疗，血糖控制较前稳定。本文结合文献探讨其临床特征、诊治要点，旨在提高临床对INS基因突变致PNDM患者的认识。
Author 姜宏卫
段倩雯
贾竹敏
李利平
刘婕
彭慧芳
曹慧芳
马瑜瑾
刘鹏
付留俊
AuthorAffiliation 河南科技大学临床医学院　河南科技大学第一附属医院内分泌代谢科　洛阳市内分泌代谢病临床医学研究中心　河南省遗传罕见病医学重点实验室　471003
AuthorAffiliation_xml – name: 河南科技大学临床医学院　河南科技大学第一附属医院内分泌代谢科　洛阳市内分泌代谢病临床医学研究中心　河南省遗传罕见病医学重点实验室　471003
Author_FL Liu Peng
Li Liping
Jia Zhumin
Peng Huifang
Liu Jie
Ma Yujin
Fu Liujun
Jiang Hongwei
Duan Qianwen
Cao Huifang
Author_FL_xml – sequence: 1
  fullname: Liu Jie
– sequence: 2
  fullname: Duan Qianwen
– sequence: 3
  fullname: Peng Huifang
– sequence: 4
  fullname: Cao Huifang
– sequence: 5
  fullname: Ma Yujin
– sequence: 6
  fullname: Liu Peng
– sequence: 7
  fullname: Fu Liujun
– sequence: 8
  fullname: Li Liping
– sequence: 9
  fullname: Jia Zhumin
– sequence: 10
  fullname: Jiang Hongwei
Author_xml – sequence: 1
  fullname: 刘婕
– sequence: 2
  fullname: 段倩雯
– sequence: 3
  fullname: 彭慧芳
– sequence: 4
  fullname: 曹慧芳
– sequence: 5
  fullname: 马瑜瑾
– sequence: 6
  fullname: 刘鹏
– sequence: 7
  fullname: 付留俊
– sequence: 8
  fullname: 李利平
– sequence: 9
  fullname: 贾竹敏
– sequence: 10
  fullname: 姜宏卫
BookMark eNotkLtKA0EYhaeIYIx5DO02zj-ztykleIOAFlqHmb2oQSfgKoJVggliGgsliimSRgQLdzFBjBZ5GWdnfQsXtDrd-c53FlBBNmWA0BLgCnVsvOId80qj4kkAy2FgEEwwEKAGxg6QAiqC7ZiG5WI2j8pRdCgwAMMMYyiinewyUW8DPRmp4acajPRLW908pNet7GqiHztp8vE97aat57Sf6Luh6sz0uK-Smb7vZnGcxT3LVNOJen3X46-09_TTvl1EcyE_ioLyf5bQ3vrabnXTqG1vbFVXa0YE-TiDk9AEbFoiAJ-B55qBCE3KBPdsbtkeoUIAiNDzXUyJoIT7FJjlYzdwie8GIS2h5b_ecy5DLvfrjebZicyJ9YuDUynyDyBXBEJ_AcqTcYA
ContentType Journal Article
Copyright Copyright © Wanfang Data Co. Ltd. All Rights Reserved.
Copyright_xml – notice: Copyright © Wanfang Data Co. Ltd. All Rights Reserved.
DBID 2B.
4A8
92I
93N
PSX
TCJ
DOI 10.3760/cma.j.cn115791-20201213-00712
DatabaseName Wanfang Data Journals - Hong Kong
WANFANG Data Centre
Wanfang Data Journals
万方数据期刊 - 香港版
China Online Journals (COJ)
China Online Journals (COJ)
DatabaseTitleList
DeliveryMethod fulltext_linktorsrc
DocumentTitle_FL A 54-year family misdiagnosis report of permanent neonatal diabetes mellitus induced by the insulin gene mutation
EndPage 908
ExternalDocumentID zhtnb202109012
GrantInformation_xml – fundername: 洛阳市医疗卫生科技计划项目; 河南省省直医疗机构服务能力提升工程建设项目; 河南省医学教育研究项目; The Science and Technology Plan Medical and Health Project of Luoyang in China; Construction Project of Improving Medical Service Capacity of Provincial Medical Institutions in Henan Province; Medical Education Research Project in Henan Province
  funderid: (1920017A); (2017); (Wjlx2020466); (1920017A); (2017); (Wjlx2020466)
GroupedDBID 2B.
4A8
92I
93N
ALMA_UNASSIGNED_HOLDINGS
CDYEO
PSX
TCJ
ID FETCH-LOGICAL-s1012-a2f41045be1d91c84ebf439bac6a56c23bb11bfcd8032b32ad3195d08e82d8ef3
ISSN 1674-5809
IngestDate Thu May 29 03:54:41 EDT 2025
IsPeerReviewed true
IsScholarly true
Issue 9
Keywords 病程
并发症
胰岛素基因突变
糖尿病
婴儿，新生
Language Chinese
LinkModel OpenURL
MergedId FETCHMERGED-LOGICAL-s1012-a2f41045be1d91c84ebf439bac6a56c23bb11bfcd8032b32ad3195d08e82d8ef3
PageCount 3
ParticipantIDs wanfang_journals_zhtnb202109012
PublicationCentury 2000
PublicationDate 2021-09-27
PublicationDateYYYYMMDD 2021-09-27
PublicationDate_xml – month: 09
  year: 2021
  text: 2021-09-27
  day: 27
PublicationDecade 2020
PublicationTitle 中华糖尿病杂志
PublicationTitle_FL Chinese Journal of Diabetes Mellitus
PublicationYear 2021
Publisher 河南科技大学临床医学院　河南科技大学第一附属医院内分泌代谢科　洛阳市内分泌代谢病临床医学研究中心　河南省遗传罕见病医学重点实验室　471003
Publisher_xml – name: 河南科技大学临床医学院　河南科技大学第一附属医院内分泌代谢科　洛阳市内分泌代谢病临床医学研究中心　河南省遗传罕见病医学重点实验室　471003
SSID ssib011909001
ssib048413644
ssib007286532
ssib003003870
ssib051368295
Score 2.2884657
Snippet 报道一例55岁确诊的胰岛素基因（INS）杂合突变所致永久性新生儿糖尿病（PNDM）家系。先证者以“发现血糖升高54年，恶心、呕吐5 d”为主诉收入住院，结合临床资料及家族史拟诊...
SourceID wanfang
SourceType Aggregation Database
StartPage 906
Title 胰岛素基因突变所致的永久性新生儿糖尿病误诊54年家系报道
URI https://d.wanfangdata.com.cn/periodical/zhtnb202109012
Volume 13
hasFullText 1
inHoldings 1
isFullTextHit
isPrint
journalDatabaseRights – providerCode: PRVEBS
  databaseName: EBSCOhost Academic Search Ultimate
  issn: 1674-5809
  databaseCode: ABDBF
  dateStart: 20150701
  customDbUrl: https://search.ebscohost.com/login.aspx?authtype=ip,shib&custid=s3936755&profile=ehost&defaultdb=asn
  isFulltext: true
  dateEnd: 99991231
  titleUrlDefault: https://search.ebscohost.com/direct.asp?db=asn
  omitProxy: true
  ssIdentifier: ssib011909001
  providerName: EBSCOhost
link http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV3Na9RAFA-lBfEiiorf9uAcU5PJJJk5ZnazFEHx0EJvJdlNLIIr2O2lpxZbxF48KK3YQ3sRwYNdbBGrh_4zZnf9L3zvJc2mWGorLGEy85v33rw3b_JmmQ_DuAffgIR7qWWKKPVMkQppSk-4ZqKcSOEJ3vnVCQ8feZPT4sGMOzMytlFZtbTQiSeai8fuK_kfq0Ie2BV3yZ7BsiVRyIA02BeeYGF4nsrGLJRMOkxbLHSZ5kxpFvpMCxZQjmowHVBCU47PggAiR8yRDaYkCz0mFa51QDpUETAKMAKLgKwGjGAaMC6BLRb4mFBUimCBXJAgwBrE3cFSlMcqcpRP1SULGvjLEzJwBaEUsXVZEDLtFQS0Jm4BC6CeQpHz-w0Po2gSCsjUiXOdyfBEziAvYDgVQbvLLy_VlqQI4K9Yfg9nXuKRQC5BLCwEOVCNjWplXScZPOSCipEos3aqVKAONPF4SPFnC7dxZUh-dgG5BymfY3vy5kEz0HbQHrvQiyT7BoJIuihE4BVKybUJdpdkelkjbZYYaIViAejCQSJI5_94AaaGv5wpYoiyzLmDwcIK95Ip5JAmcsVDGrk7CEM6oF4HNQT2Q3ApRlVUQZ1codFymZH72SkXPeM0GvPRdxS5BnQD7R3pfNCfwAFPVqaqkdPl_din6rXCH6EDqdw1fMKUgh1nOPBQoAkYaC_2KfIZ1LMiv64VOWCpQ3kEHqrlVOIOzxemKy11JDBxKgOwqkQZyvIqAauig1H-ioVwtRsMYM1n0cTTiWYbD9VSNgyfnE5xNHFuwYdBYLk0d3Gu046x61swU4DYdoxDuGSNGmOBrutGJTTAdS_DT72PO9yHW9RtmGeowxUt8C4kBMvecCbhwpvkdCdW2fRzBivEvn-i0LS9sp1G7SeVmcDUReNCMYUfD_Lx-JIxsjh32Xg8eNnNvm7297azrR_Z5nb_83L25n3v9dLg1V7_w0qv-_3X_mpv6VNvvdt_t5WtHPR317PuQX9jdbCzM9hZc0W2v5d9-dbf_dlb-_h7-e0VY7oRTtUmzeK2GnMez0g0I54KGybIcWK3lN2UIolTmO3FUdOLXK_JnTi27ThttqTl8NjhUQuiH7dlyUTylkxS56ox2n7eTq4Z407ELVfGrZjHvhCSx1bkx5Hy7Vbkg6ac68bdQgOzxddofvao3W78E3HTOD8c4G4Zo50XC8ltmF914juFrf8AHUoJvA
linkProvider EBSCOhost
openUrl ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=%E8%83%B0%E5%B2%9B%E7%B4%A0%E5%9F%BA%E5%9B%A0%E7%AA%81%E5%8F%98%E6%89%80%E8%87%B4%E7%9A%84%E6%B0%B8%E4%B9%85%E6%80%A7%E6%96%B0%E7%94%9F%E5%84%BF%E7%B3%96%E5%B0%BF%E7%97%85%E8%AF%AF%E8%AF%8A54%E5%B9%B4%E5%AE%B6%E7%B3%BB%E6%8A%A5%E9%81%93&rft.jtitle=%E4%B8%AD%E5%8D%8E%E7%B3%96%E5%B0%BF%E7%97%85%E6%9D%82%E5%BF%97&rft.au=%E5%88%98%E5%A9%95&rft.au=%E6%AE%B5%E5%80%A9%E9%9B%AF&rft.au=%E5%BD%AD%E6%85%A7%E8%8A%B3&rft.au=%E6%9B%B9%E6%85%A7%E8%8A%B3&rft.date=2021-09-27&rft.pub=%E6%B2%B3%E5%8D%97%E7%A7%91%E6%8A%80%E5%A4%A7%E5%AD%A6%E4%B8%B4%E5%BA%8A%E5%8C%BB%E5%AD%A6%E9%99%A2%E3%80%80%E6%B2%B3%E5%8D%97%E7%A7%91%E6%8A%80%E5%A4%A7%E5%AD%A6%E7%AC%AC%E4%B8%80%E9%99%84%E5%B1%9E%E5%8C%BB%E9%99%A2%E5%86%85%E5%88%86%E6%B3%8C%E4%BB%A3%E8%B0%A2%E7%A7%91%E3%80%80%E6%B4%9B%E9%98%B3%E5%B8%82%E5%86%85%E5%88%86%E6%B3%8C%E4%BB%A3%E8%B0%A2%E7%97%85%E4%B8%B4%E5%BA%8A%E5%8C%BB%E5%AD%A6%E7%A0%94%E7%A9%B6%E4%B8%AD%E5%BF%83%E3%80%80%E6%B2%B3%E5%8D%97%E7%9C%81%E9%81%97%E4%BC%A0%E7%BD%95%E8%A7%81%E7%97%85%E5%8C%BB%E5%AD%A6%E9%87%8D%E7%82%B9%E5%AE%9E%E9%AA%8C%E5%AE%A4%E3%80%80471003&rft.issn=1674-5809&rft.volume=13&rft.issue=9&rft.spage=906&rft.epage=908&rft_id=info:doi/10.3760%2Fcma.j.cn115791-20201213-00712&rft.externalDocID=zhtnb202109012
thumbnail_s http://utb.summon.serialssolutions.com/2.0.0/image/custom?url=http%3A%2F%2Fwww.wanfangdata.com.cn%2Fimages%2FPeriodicalImages%2Fzhtnb%2Fzhtnb.jpg