Maturity-Onset Diabetes of the Young (MODY) With HNF1B p.Glu105Lys Mutation Achieving Significant Insulin Reduction on Tirzepatide: A Case Report

被引：0
|
作者：
Sue, Mihiro [1 ]
Watanabe, Mayu [1 ]
Inoue, Ayumi [1 ]
Katayama, Akihiro [1 ]
Teshigawara, Sanae [2 ]
Matsushita, Yuichi [1 ]
Takeda, Masaya [1 ]
Iseda, Izumi [1 ]
Eguchi, Jun [3 ]
Hida, Kazuyuki [1 ]
机构：
[1] NHO Okayama Med Ctr, Dept Diabetol & Metab, Okayama, Japan
[2] Okayama Saiseikai Gen Hosp, Diabet Ctr, Dept Internal Med, Okayama, Japan
[3] Okayama Univ, Dept Nephrol Rheumatol Endocrinol & Metab, Fac Med Dent & Pharmaceut Sci, Okayama, Japan
来源：
CLINICAL CASE REPORTS | 2025年 / 13卷 / 02期
关键词：
glucagon-like peptide-1 (GLP-1); glucose-dependent insulinotropic polypeptide (GIP); maturity-onset diabetes in young (MODY); tirzepatide; HEPATOCYTE; PROGNOSIS; GENE;
D O I：
10.1002/ccr3.70173
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
This report describes the first case of maturity-onset diabetes in young (MODY) with HNF1B mutation started administration of the dual glucose-dependent insulinotropic polypeptide and glucagon-like peptide-1 receptor agonist, tirzepatide. A 26-year-old female with a 15-year history of diabetes mellitus was diagnosed with MODY, which is characterized by decreased insulin secretion. She was treated with tirzepatide, which significantly improved her glycemic management; insulin secretion increased the fasting serum C-peptide immunoreactivity from 0.36 to 1.09 ng/mL. The patient discontinued glimepiride, and her total daily insulin dose was reduced from 88 to 4 units. This report highlights the glucose-lowering effects of tirzepatide in a patient with MODY who has the HNF1B p.Glu105Lys mutation.
引用
收藏
页数：6
相关论文
共 39 条
  • [31] Hepatocellular Carcinoma Arising in an HNF-1α-Mutated Adenoma in a 23-Year-Old Woman with Maturity-Onset Diabetes of the Young: A Case Report
    Stueck, Ashley E.
    Qu, Zhenhong
    Huang, Mary Ann Y.
    Camprecios, Genis
    Ferrell, Linda D.
    Thung, Swan N.
    SEMINARS IN LIVER DISEASE, 2015, 35 (04) : 444 - 449
  • [32] Exocrine pancreatic function in hepatocyte nuclear factor 1β-maturity-onset diabetes of the young (HNF1B-MODY) is only moderately reduced: compensatory hypersecretion from a hypoplastic pancreas
    Tjora, E.
    Wathle, G.
    Erchinger, F.
    Engjom, T.
    Molven, A.
    Aksnes, L.
    Haldorsen, I. S.
    Dimcevski, G.
    Raeder, H.
    Njolstad, P. R.
    DIABETIC MEDICINE, 2013, 30 (08) : 946 - 955
  • [33] Should the Negativity for Islet Cell Autoantibodies Be Used in a Prescreening for Genetic Testing in Maturity-Onset Diabetes of the Young? The Case of Autoimmunity-Associated Destruction of Pancreatic β-Cells in a Family of HNF1A-MODY Subjects
    Urbanova, Jana
    Rypackova, Blanka
    Kucera, Petr
    Andel, Michal
    Heneberg, Petr
    INTERNATIONAL ARCHIVES OF ALLERGY AND IMMUNOLOGY, 2013, 161 (03) : 279 - 284
  • [34] Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 3 (MODY3) carrying a hepatocyte nuclear factor 1-alpha (HNF1A) mutation
    Griscelli, Frank
    Ezanno, Helene
    Soubeyrand, Mathis
    Feraud, Olivier
    Oudrhiri, Noufissa
    Bonnefond, Amelie
    Turhan, Ali G.
    Froguel, Philippe
    Bennaceur-Griscelli, Annelise
    STEM CELL RESEARCH, 2018, 29 : 56 - 59
  • [35] Proposed Mechanism for a Novel Insertion/Deletion Frameshift Mutation (I414G415ATCG → CCA) in the Hepatocyte Nuclear Factor 1 Alpha (HNF-1α) Gene Which Causes Maturity-Onset Diabetes of the Young (MODY)
    Ellard, Sian
    Bulman, Michael P.
    Frayling, Timothy M.
    Shepherd, Maggie
    Hattersley, Andrew T.
    HUMAN MUTATION, 2000, 16 (03)
  • [36] A new mutation c.685G>A:p.E229K in the KCNJ11 gene: A case report of maturity-onset diabetes of the young13
    Song, Xinjie
    Cao, Yonghong
    Ye, Jun
    Dai, Wu
    Zhang, Suwan
    Ye, Shuai
    MEDICINE, 2022, 101 (39) : E30668
  • [37] Four Cases of Maturity Onset Diabetes of the Young (MODY) Type 5 Associated with Mutations in the Hepatocyte Nuclear Factor 1 Beta (HNF1B) Gene Presenting in a 13-Year-Old Boy and in Adult Men Aged 33, 34, and 35 Years in Poland
    Motyka, Rafal
    Kolbuc, Marcin
    Wierzcholowski, Wojciech
    Beck, Bodo B.
    Towpik, Iwona Ewa
    Zaniew, Marcin
    AMERICAN JOURNAL OF CASE REPORTS, 2021, 22 : 1 - 7
  • [38] Maturity-onset diabetes of the young type 1 (MODY1)-associated mutations R154X and E276Q in hepatocyte nuclear factor 4α (HNF4α) gene impair recruitment of p300, a key transcriptional coactivator
    Eeckhoute, J
    Formstecher, P
    Laine, B
    MOLECULAR ENDOCRINOLOGY, 2001, 15 (07) : 1200 - 1210
  • [39] A new mutation in the hepatocyte nuclear factor-1-alpha gene (P224S) in a newly discovered German family with maturity-onset diabetes of the young 3 (MODY 3). Family members carry additionally the homozygous I27L amino acid polymorphism in the HNF1 alpha gene
    Fehmann, HC
    Gross, U
    Epe, M
    EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES, 2004, 112 (02) : 84 - 87
1234