一名被诊断为 HNF1A MODY 的非洲年轻人从每日多次胰岛素注射转为磺脲类药物治疗:病例报告。

IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Journal of Medical Case Reports Pub Date : 2024-10-17 DOI:10.1186/s13256-024-04850-3
Jean Claude Katte, Mesmin Y Dehayem, Kevin Colclough, Eugene Sobngwi
{"title":"一名被诊断为 HNF1A MODY 的非洲年轻人从每日多次胰岛素注射转为磺脲类药物治疗:病例报告。","authors":"Jean Claude Katte, Mesmin Y Dehayem, Kevin Colclough, Eugene Sobngwi","doi":"10.1186/s13256-024-04850-3","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Maturity onset diabetes of the young is one of the commonest causes of monogenic diabetes and can easily be mistaken for type 1 diabetes. A diagnosis of maturity onset diabetes of the young can have direct implications for genetic counseling, family screening, and precision diabetes treatment. However, the cost of genetic testing and identifying individuals to test are the main challenges for diagnosis and management in sub-Saharan Africa. We report the very first documented case of HNF1A maturity onset diabetes of the young in the sub-Saharan African region.</p><p><strong>Case presentation: </strong>A 20-year-old female Black African young adult diagnosed with type 1 diabetes aged 14 presented for routine out-patient diabetes consultation. She was on multiple daily insulin injections; total combined dose 0.79 IU/kg/day with an HbA1c of 7.7%. The rest of her laboratory examinations were normal. On extended laboratory analysis, she had good residual insulin secretion with post-meal plasma C-peptide levels at 1150 pmol/L. She tested negative for glutamic acid decarboxylase (GAD65), islet antigen-2 (IA-2), and zinc transporter 8 (ZnT8) islet autoantibodies. Targeted next-generation sequencing (t-NGS) for monogenic diabetes was performed using DNA extracted from a buccal sample. She was diagnosed with HNF1A maturity onset diabetes of the young, with the c.607C > T; p.(Arg203Cys) pathogenic variant, which has never been reported in sub-Saharan Africa. Her clinical practitioners provided genetic and therapeutic counseling. Within 10 months following the diagnosis of maturity onset diabetes of the young, she was successfully switched from multiple daily insulin injections to oral antidiabetic tablets (sulphonylurea) while maintaining stable glycemic control (HBA1c of 7.0%) and reducing hypoglycemia. She expressed a huge relief from the daily finger pricks for blood glucose monitoring.</p><p><strong>Conclusion: </strong>This case reveals that HNF1A maturity onset diabetes of the young (and probably other causes of monogenic diabetes) can present in sub-Saharan Africa. A diagnosis of maturity onset diabetes of the young can have significant life-changing therapeutic implications.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9000,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11488176/pdf/","citationCount":"0","resultStr":"{\"title\":\"Treatment switch from multiple daily insulin injections to sulphonylureas in an African young adult diagnosed with HNF1A MODY: a case report.\",\"authors\":\"Jean Claude Katte, Mesmin Y Dehayem, Kevin Colclough, Eugene Sobngwi\",\"doi\":\"10.1186/s13256-024-04850-3\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Maturity onset diabetes of the young is one of the commonest causes of monogenic diabetes and can easily be mistaken for type 1 diabetes. A diagnosis of maturity onset diabetes of the young can have direct implications for genetic counseling, family screening, and precision diabetes treatment. However, the cost of genetic testing and identifying individuals to test are the main challenges for diagnosis and management in sub-Saharan Africa. We report the very first documented case of HNF1A maturity onset diabetes of the young in the sub-Saharan African region.</p><p><strong>Case presentation: </strong>A 20-year-old female Black African young adult diagnosed with type 1 diabetes aged 14 presented for routine out-patient diabetes consultation. She was on multiple daily insulin injections; total combined dose 0.79 IU/kg/day with an HbA1c of 7.7%. The rest of her laboratory examinations were normal. On extended laboratory analysis, she had good residual insulin secretion with post-meal plasma C-peptide levels at 1150 pmol/L. She tested negative for glutamic acid decarboxylase (GAD65), islet antigen-2 (IA-2), and zinc transporter 8 (ZnT8) islet autoantibodies. Targeted next-generation sequencing (t-NGS) for monogenic diabetes was performed using DNA extracted from a buccal sample. She was diagnosed with HNF1A maturity onset diabetes of the young, with the c.607C > T; p.(Arg203Cys) pathogenic variant, which has never been reported in sub-Saharan Africa. Her clinical practitioners provided genetic and therapeutic counseling. Within 10 months following the diagnosis of maturity onset diabetes of the young, she was successfully switched from multiple daily insulin injections to oral antidiabetic tablets (sulphonylurea) while maintaining stable glycemic control (HBA1c of 7.0%) and reducing hypoglycemia. She expressed a huge relief from the daily finger pricks for blood glucose monitoring.</p><p><strong>Conclusion: </strong>This case reveals that HNF1A maturity onset diabetes of the young (and probably other causes of monogenic diabetes) can present in sub-Saharan Africa. A diagnosis of maturity onset diabetes of the young can have significant life-changing therapeutic implications.</p>\",\"PeriodicalId\":16236,\"journal\":{\"name\":\"Journal of Medical Case Reports\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2024-10-17\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11488176/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Medical Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1186/s13256-024-04850-3\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Medical Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1186/s13256-024-04850-3","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0

摘要

背景:青年期成熟型糖尿病是单基因糖尿病最常见的病因之一,很容易被误诊为 1 型糖尿病。幼年成熟型糖尿病的诊断会对遗传咨询、家庭筛查和糖尿病精准治疗产生直接影响。然而,在撒哈拉以南非洲地区,基因检测的成本和确定检测个体是诊断和管理的主要挑战。我们报告了撒哈拉以南非洲地区第一例有记录的 HNF1A 成熟型青年糖尿病病例:一名 20 岁的非洲黑人女性青年在 14 岁时被诊断为 1 型糖尿病,前来进行糖尿病常规门诊咨询。她每天多次注射胰岛素,总剂量为 0.79 IU/kg/天,HbA1c 为 7.7%。她的其他实验室检查结果均正常。在扩展实验室分析中,她的胰岛素剩余分泌良好,餐后血浆 C 肽水平为 1150 pmol/L。她的谷氨酸脱羧酶(GAD65)、胰岛抗原-2(IA-2)和锌转运体8(ZnT8)胰岛自身抗体检测结果均为阴性。利用从口腔样本中提取的 DNA 进行了单基因糖尿病的靶向新一代测序(t-NGS)。她被诊断为 HNF1A 成熟型青年糖尿病,致病变体为 c.607C > T; p.(Arg203Cys),该变体从未在撒哈拉以南非洲地区报道过。她的临床医生为她提供了遗传和治疗咨询。在确诊为成熟型青年糖尿病后的 10 个月内,她成功地从每天多次注射胰岛素转为口服抗糖尿病药片(磺脲类药物),同时保持了稳定的血糖控制(HBA1c 为 7.0%)并减少了低血糖。她表示,每天扎手指监测血糖的工作大大减轻了她的负担:本病例揭示了 HNF1A 成熟型青年糖尿病(也可能是其他原因导致的单基因糖尿病)可能出现在撒哈拉以南非洲地区。幼年成熟型糖尿病的诊断可能会对治疗产生重大影响。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
Treatment switch from multiple daily insulin injections to sulphonylureas in an African young adult diagnosed with HNF1A MODY: a case report.

Background: Maturity onset diabetes of the young is one of the commonest causes of monogenic diabetes and can easily be mistaken for type 1 diabetes. A diagnosis of maturity onset diabetes of the young can have direct implications for genetic counseling, family screening, and precision diabetes treatment. However, the cost of genetic testing and identifying individuals to test are the main challenges for diagnosis and management in sub-Saharan Africa. We report the very first documented case of HNF1A maturity onset diabetes of the young in the sub-Saharan African region.

Case presentation: A 20-year-old female Black African young adult diagnosed with type 1 diabetes aged 14 presented for routine out-patient diabetes consultation. She was on multiple daily insulin injections; total combined dose 0.79 IU/kg/day with an HbA1c of 7.7%. The rest of her laboratory examinations were normal. On extended laboratory analysis, she had good residual insulin secretion with post-meal plasma C-peptide levels at 1150 pmol/L. She tested negative for glutamic acid decarboxylase (GAD65), islet antigen-2 (IA-2), and zinc transporter 8 (ZnT8) islet autoantibodies. Targeted next-generation sequencing (t-NGS) for monogenic diabetes was performed using DNA extracted from a buccal sample. She was diagnosed with HNF1A maturity onset diabetes of the young, with the c.607C > T; p.(Arg203Cys) pathogenic variant, which has never been reported in sub-Saharan Africa. Her clinical practitioners provided genetic and therapeutic counseling. Within 10 months following the diagnosis of maturity onset diabetes of the young, she was successfully switched from multiple daily insulin injections to oral antidiabetic tablets (sulphonylurea) while maintaining stable glycemic control (HBA1c of 7.0%) and reducing hypoglycemia. She expressed a huge relief from the daily finger pricks for blood glucose monitoring.

Conclusion: This case reveals that HNF1A maturity onset diabetes of the young (and probably other causes of monogenic diabetes) can present in sub-Saharan Africa. A diagnosis of maturity onset diabetes of the young can have significant life-changing therapeutic implications.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Journal of Medical Case Reports
Journal of Medical Case Reports Medicine-Medicine (all)
CiteScore
1.50
自引率
0.00%
发文量
436
期刊介绍: JMCR is an open access, peer-reviewed online journal that will consider any original case report that expands the field of general medical knowledge. Reports should show one of the following: 1. Unreported or unusual side effects or adverse interactions involving medications 2. Unexpected or unusual presentations of a disease 3. New associations or variations in disease processes 4. Presentations, diagnoses and/or management of new and emerging diseases 5. An unexpected association between diseases or symptoms 6. An unexpected event in the course of observing or treating a patient 7. Findings that shed new light on the possible pathogenesis of a disease or an adverse effect
期刊最新文献
Management of iatrogenic atrial perforation caused by pacemaker electrodes: a case report. Pleomorphic rhabdomyosarcoma of the adult bladder: a case report. Right juxtaposition of left atrial appendage combined with multiple cardiac malformations: A case report and review of literature. The first report of rhinosinusitis by Rhizopus delemar in a patient with severe COVID-19 in Iran: a case report. Adenocarcinoma of unknown primary presenting with congestive heart failure in a middle-aged Ethiopian woman: a case report.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1