儿童期诊断的青少年起病的成人型糖尿病2型临床特点及基因分析
目的 分析总结青少年起病的成人型糖尿病2型(maturity-onset diabetes of the young type 2,MODY2)患儿的临床表现及遗传学特点,提高临床工作中对MODY2的识别能力.方法 回顾性分析2017年8月—2023年7月在华中科技大学同济医学院附属同济医院儿科确诊的13例MODY2患儿的临床资料.结果 13例MODY2患儿(编号P1～13)均有糖尿病家族史,均为健康体检或因感染性疾病偶然发现的轻度空腹高血糖[(6.4±0.5)mmol/L)].其中2例空腹血糖达到糖尿病诊断标准,其他病例均为空腹血糖受损或糖耐量受损;1 h血糖(one-hour post-g...
Saved in:
| Published in | 中国当代儿科杂志 Vol. 27; no. 1; pp. 94 - 100 |
|---|---|
| Main Authors | , , , , , |
| Format | Journal Article |
| Language | Chinese |
| Published |
华中科技大学同济医学院附属同济医院儿科学系/儿童遗传代谢内分泌罕见病湖北省重点实验室,湖北 武汉 430030
2025
|
| Subjects | |
| Online Access | Get full text |
| ISSN | 1008-8830 |
| DOI | 10.7499/j.issn.1008-8830.2408032 |
Cover
| Abstract | 目的 分析总结青少年起病的成人型糖尿病2型(maturity-onset diabetes of the young type 2,MODY2)患儿的临床表现及遗传学特点,提高临床工作中对MODY2的识别能力.方法 回顾性分析2017年8月—2023年7月在华中科技大学同济医学院附属同济医院儿科确诊的13例MODY2患儿的临床资料.结果 13例MODY2患儿(编号P1～13)均有糖尿病家族史,均为健康体检或因感染性疾病偶然发现的轻度空腹高血糖[(6.4±0.5)mmol/L)].其中2例空腹血糖达到糖尿病诊断标准,其他病例均为空腹血糖受损或糖耐量受损;1 h血糖(one-hour post-glucose,1-hPG)波动在8.31～13.06 mmol/L,已到达国际糖尿病联盟推荐的糖尿病诊断标准.13例MODY2患儿均为葡萄糖激酶(glucokinase,GCK)基因杂合变异,其中P6为GCK c.1047C>A(p.Y349X)、P11为GCK c.1146_1147insGCAGAGCGTGTCTACGCGCGCTGCGCACATGTGC(p.S383Alafs*87)和P13 为GCK c.784_785insC(p.D262Alafs*13),均为尚未报道过的变异.结论 该研究丰富了MODY2的基因变异谱;临床对于有糖尿病家族史、偶然发现的轻度空腹血糖增高、糖尿病相关抗体阴性的患儿,需警惕MODY2可能. |
|---|---|
| AbstractList | 目的 分析总结青少年起病的成人型糖尿病2型(maturity-onset diabetes of the young type 2,MODY2)患儿的临床表现及遗传学特点,提高临床工作中对MODY2的识别能力.方法 回顾性分析2017年8月—2023年7月在华中科技大学同济医学院附属同济医院儿科确诊的13例MODY2患儿的临床资料.结果 13例MODY2患儿(编号P1～13)均有糖尿病家族史,均为健康体检或因感染性疾病偶然发现的轻度空腹高血糖[(6.4±0.5)mmol/L)].其中2例空腹血糖达到糖尿病诊断标准,其他病例均为空腹血糖受损或糖耐量受损;1 h血糖(one-hour post-glucose,1-hPG)波动在8.31～13.06 mmol/L,已到达国际糖尿病联盟推荐的糖尿病诊断标准.13例MODY2患儿均为葡萄糖激酶(glucokinase,GCK)基因杂合变异,其中P6为GCK c.1047C>A(p.Y349X)、P11为GCK c.1146_1147insGCAGAGCGTGTCTACGCGCGCTGCGCACATGTGC(p.S383Alafs*87)和P13 为GCK c.784_785insC(p.D262Alafs*13),均为尚未报道过的变异.结论 该研究丰富了MODY2的基因变异谱;临床对于有糖尿病家族史、偶然发现的轻度空腹血糖增高、糖尿病相关抗体阴性的患儿,需警惕MODY2可能. |
| Abstract_FL | Objective To study the clinical manifestations and genetic characteristics of children with maturity-onset diabetes of the young type 2(MODY2),aiming to enhance the recognition of MODY2 in clinical practice.Methods A retrospective analysis was conducted on the clinical data of 13 children diagnosed with MODY2 at the Department of Pediatrics of Tongji Hospital of Tongji Medical College of Huazhong University of Science and Technology from August 2017 to July 2023.Results All 13 MODY2 children had a positive family history of diabetes and were found to have mild fasting hyperglycemia[(6.4±0.5)mmol/L]during health examinations or due to infectious diseases.In the oral glucose tolerance test,two cases met the diagnostic criteria for diabetes with fasting blood glucose,while the others exhibited impaired fasting glucose or impaired glucose tolerance.The one-hour post-glucose load(1-hPG)fluctuated between 8.31 and 13.06 mmol/L,meeting the diagnostic criteria for diabetes recommended by the International Diabetes Federation.All 13 MODY2 children had heterozygous variants in the glucokinase(GCK)gene,with Cases 6(GCK c.1047C>A,p.Y349X),11(GCK c.1146_1147ins GCAGAGCGTGTCTACGCGCGCTGCGCACATGTGC,p.S383Alafs*87),and 13(GCK c.784_785insC,p.D262Alafs*13)presenting variants that had not been previously reported.Conclusions This study enriches the spectrum of genetic variations associated with MODY2.Clinically,children with a family history of diabetes,incidental findings of mild fasting hyperglycemia,and negative diabetes-related antibodies should be considered for the possibility of MODY2. |
| Author | 吴薇 罗小平 叶娟 侯凌 梁雁 叶枫 |
| AuthorAffiliation | 华中科技大学同济医学院附属同济医院儿科学系/儿童遗传代谢内分泌罕见病湖北省重点实验室,湖北 武汉 430030 |
| AuthorAffiliation_xml | – name: 华中科技大学同济医学院附属同济医院儿科学系/儿童遗传代谢内分泌罕见病湖北省重点实验室,湖北 武汉 430030 |
| Author_FL | YE Feng WU Wei YE Juan HOU Ling LUO Xiao-Ping LIANG Yan |
| Author_FL_xml | – sequence: 1 fullname: YE Juan – sequence: 2 fullname: YE Feng – sequence: 3 fullname: HOU Ling – sequence: 4 fullname: WU Wei – sequence: 5 fullname: LUO Xiao-Ping – sequence: 6 fullname: LIANG Yan |
| Author_xml | – sequence: 1 fullname: 叶娟 – sequence: 2 fullname: 叶枫 – sequence: 3 fullname: 侯凌 – sequence: 4 fullname: 吴薇 – sequence: 5 fullname: 罗小平 – sequence: 6 fullname: 梁雁 |
| BookMark | eNo9zT1Lw0AcBvAbKthWv4OrQ-L_Lpe3UYpvUHCxc7n0LsUoKXiIkFGq1DhYHSr40ro4iViwosnSL9NL6rcwoDg9PL_heSqoFHZCgdAKBt2mrrsW6PtShjoGcDTHMUAnFBwwSAmV_20RVaQMAEyHukYZNVR3mr88Zw-j-VucDV7zu-73440aX6tkMv_4zG_PCsl6_VmaquFl_j5Q42mBpCizr4lK4_wiyU8TdRWrUarun1TvPBv2l9CCzw6lWP7LKmpsbuzVtrX67tZObb2uSQyUasQWHhAOmBMumAWmh3nLJ75lUvBMn1qUWlyYmFjEpwyD4K5NHI4FgMVaFBtVtPq7e8JCn4XtZtA5PgqLx2bU5lwcRBEBYgIGTI0fhVZz8g |
| 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 | 10.7499/j.issn.1008-8830.2408032 |
| 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 | Clinical characteristics and genetic analysis of maturity-onset diabetes of the young type 2 diagnosed in childhood |
| EndPage | 100 |
| ExternalDocumentID | zgddekzz202501014 |
| GrantInformation_xml | – fundername: (国家重点研发计划); (四大慢病重大专项) funderid: (国家重点研发计划); (四大慢病重大专项) |
| GroupedDBID | --- -05 2B. 4A8 92F 92I 93N ABJNI ACGFS ALMA_UNASSIGNED_HOLDINGS CCEZO CIEJG CW9 EMOBN F5P PSX RPM TCJ TGQ U1G U5O |
| ID | FETCH-LOGICAL-s1044-27eb02d01d2dea605b1dcf2f6540b5f46446de51262f4a10ed9728d1e006ac413 |
| ISSN | 1008-8830 |
| IngestDate | Thu May 29 03:59:54 EDT 2025 |
| IsPeerReviewed | false |
| IsScholarly | true |
| Issue | 1 |
| Keywords | 基因型 单基因糖尿病 GCK gene Monogenic diabetes Genotype 青少年起病的成人型糖尿病2型 Maturity-onset diabetes of the young type 2 儿童 葡萄糖激酶基因 Child |
| Language | Chinese |
| LinkModel | OpenURL |
| MergedId | FETCHMERGED-LOGICAL-s1044-27eb02d01d2dea605b1dcf2f6540b5f46446de51262f4a10ed9728d1e006ac413 |
| PageCount | 7 |
| ParticipantIDs | wanfang_journals_zgddekzz202501014 |
| PublicationCentury | 2000 |
| PublicationDate | 2025 |
| PublicationDateYYYYMMDD | 2025-01-01 |
| PublicationDate_xml | – year: 2025 text: 2025 |
| PublicationDecade | 2020 |
| PublicationTitle | 中国当代儿科杂志 |
| PublicationTitle_FL | Chinese Journal of Contemporary Pediatrics |
| PublicationYear | 2025 |
| Publisher | 华中科技大学同济医学院附属同济医院儿科学系/儿童遗传代谢内分泌罕见病湖北省重点实验室,湖北 武汉 430030 |
| Publisher_xml | – name: 华中科技大学同济医学院附属同济医院儿科学系/儿童遗传代谢内分泌罕见病湖北省重点实验室,湖北 武汉 430030 |
| SSID | ssj0058493 ssib051368748 ssib001103687 ssib046626328 ssib002262955 |
| Score | 2.4367547 |
| Snippet | 目的 分析总结青少年起病的成人型糖尿病2型(maturity-onset diabetes of the young type 2,MODY2)患儿的临床表现及遗传学特点,提高临床工作中对MODY2的识别能力.方法 回顾... |
| SourceID | wanfang |
| SourceType | Aggregation Database |
| StartPage | 94 |
| Title | 儿童期诊断的青少年起病的成人型糖尿病2型临床特点及基因分析 |
| URI | https://d.wanfangdata.com.cn/periodical/zgddekzz202501014 |
| Volume | 27 |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| journalDatabaseRights | – providerCode: PRVAQN databaseName: PubMed Central issn: 1008-8830 databaseCode: RPM dateStart: 20160101 customDbUrl: isFulltext: true dateEnd: 99991231 titleUrlDefault: https://www.ncbi.nlm.nih.gov/pmc/ omitProxy: true ssIdentifier: ssj0058493 providerName: National Library of Medicine |
| link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnR1Na9RANNR68SKKit8UcU5lazJJJjPHZDdLEfTUQm8l2SQVhBVse9mjVKn1YPVQwY_WiycRC1a0e-lvEZrd-i987824m7pVVFjC7Mt7b97XZt6bnZlY1vXclbwl3KAG6UJS8xKe1RTPoFQp3EQUaZbZOe4dvnVbTM96N-f8ubHxb5VVS8tL6VSrc-S-kv_xKsDAr7hL9h88O2AKAGiDf-EKHobrX_mYxT6THouaLA5YGLHQZ7Fgqs4UQCQLm0yGBBEsbCCOChE_Vkw1mOJIHtlMOdRQLPKQKoJ2QMgBk36FSjApmbJZDD2G-AEqFTMZIU7kYi-aoZaHyHkFCcgk9eEjMUoGGAo7xganBuijhfZRB9MHKGbTLcmkIH1ipt_--TOtNsxRScKPqAFX5dIt4OAeNlZAags0hNSGaDI1GJONIBFpFILWzSPukBxhNLwDzGM0OqKARvUqDdhNmxesZMZ-M9eid2TT74IoQaC4ok9FVrCLJEOEHgKx0WChMOxlHXHAe0ju41dQe4gDPlcs5KYhtRscVOFP5AOqUdsNOJPzAZk3j4pH6MvBWECN6uTIgT8kBothLijWKj4GnihSQF70KZwDZDUMTIERo4MOMJWO2TrhKHJA41BghTEpC-qExJkgYEleH2U1iSCjnkAzSTXpuThUVQZxXNIjpQGZUV6fQHHoaaaHbP2ObZP8OXRs7kheEXhKUV6B_KcG_KfwfEDbzM8fPrW9swB5w91OB6OI3od9zDrOccrwlwlFyL5dIaszKoKr4VZxT-BpUcMZAt9BbG_wRymUD0rvITIi6cWKKO-N30lL2xPbRdJeqGTSM6esk6YEngj18-y0Nda5c8aaLVf2-u_f9V5vHXxc62186L9c-f7mebn9rNzdOfj8pf_iIUB6q-v73W65-aT_aaPc3gMghy_7X3fK7lr_8W7_wW75dK3c6pav3parj3qb62et2WY8U5-umVe-1BYd2_NqPMhTm2e2k_EsT4Ttp07WKnghoLBM_cKD6k1kORQpghde4th5pgIuMyeH5CFpQUJ-zhpv32vn560JKEagtC14q0hwaYVMglQlTuIrLlPBpbpgXTNmmDeP9MX5Ea9d_BukS9YJbOuJ2cvW-NL95fwKlCpL6VVy9g8GFOoj |
| linkProvider | National Library of Medicine |
| 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=%E5%84%BF%E7%AB%A5%E6%9C%9F%E8%AF%8A%E6%96%AD%E7%9A%84%E9%9D%92%E5%B0%91%E5%B9%B4%E8%B5%B7%E7%97%85%E7%9A%84%E6%88%90%E4%BA%BA%E5%9E%8B%E7%B3%96%E5%B0%BF%E7%97%852%E5%9E%8B%E4%B8%B4%E5%BA%8A%E7%89%B9%E7%82%B9%E5%8F%8A%E5%9F%BA%E5%9B%A0%E5%88%86%E6%9E%90&rft.jtitle=%E4%B8%AD%E5%9B%BD%E5%BD%93%E4%BB%A3%E5%84%BF%E7%A7%91%E6%9D%82%E5%BF%97&rft.au=%E5%8F%B6%E5%A8%9F&rft.au=%E5%8F%B6%E6%9E%AB&rft.au=%E4%BE%AF%E5%87%8C&rft.au=%E5%90%B4%E8%96%87&rft.date=2025&rft.pub=%E5%8D%8E%E4%B8%AD%E7%A7%91%E6%8A%80%E5%A4%A7%E5%AD%A6%E5%90%8C%E6%B5%8E%E5%8C%BB%E5%AD%A6%E9%99%A2%E9%99%84%E5%B1%9E%E5%90%8C%E6%B5%8E%E5%8C%BB%E9%99%A2%E5%84%BF%E7%A7%91%E5%AD%A6%E7%B3%BB%2F%E5%84%BF%E7%AB%A5%E9%81%97%E4%BC%A0%E4%BB%A3%E8%B0%A2%E5%86%85%E5%88%86%E6%B3%8C%E7%BD%95%E8%A7%81%E7%97%85%E6%B9%96%E5%8C%97%E7%9C%81%E9%87%8D%E7%82%B9%E5%AE%9E%E9%AA%8C%E5%AE%A4%2C%E6%B9%96%E5%8C%97+%E6%AD%A6%E6%B1%89+430030&rft.issn=1008-8830&rft.volume=27&rft.issue=1&rft.spage=94&rft.epage=100&rft_id=info:doi/10.7499%2Fj.issn.1008-8830.2408032&rft.externalDocID=zgddekzz202501014 |
| thumbnail_s | http://utb.summon.serialssolutions.com/2.0.0/image/custom?url=http%3A%2F%2Fwww.wanfangdata.com.cn%2Fimages%2FPeriodicalImages%2Fzgddekzz%2Fzgddekzz.jpg |