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肝酶升高:年轻型5型成年发病型糖尿病(MODY 5)中一项未被充分认识的发现。

Increased Liver Enzymes: An Under-Recognized Finding in Maturity-Onset Diabetes of the Young Type 5 (MODY 5).

作者信息

Veerareddy Sudiksha, Reddy Saigopala, Barreto Mauricio, Vedherey Niharika, Gopalareddy Vani V

机构信息

Mediciti Institute of Medical Sciences, Telangana, India.

University of North Carolina School of Medicine, Chapel Hill, NC.

出版信息

ACG Case Rep J. 2023 Oct 3;10(10):e01150. doi: 10.14309/crj.0000000000001150. eCollection 2023 Oct.

Abstract

Maturity-onset diabetes of the young type 5 (MODY 5) is characterized by a single gene mutation in the gene. This frequently leads to insulin resistance and presents as young-onset diabetes. Other manifestations can occur in organs expressing hepatocyte nuclear factor-1 beta. This case report highlights family members with MODY 5 presenting with increased liver enzymes with no etiology. The siblings and their mother had a point mutation p.Arg235Trp in gene located at 17q12. This variant is associated with autosomal dominant MODY 5 with renal cysts also known as renal cysts and diabetes syndrome.

摘要

青少年发病的成年型糖尿病5型(MODY 5)的特征是该基因存在单基因突变。这常导致胰岛素抵抗,并表现为青少年发病的糖尿病。在表达肝细胞核因子-1β的器官中可能出现其他表现。本病例报告重点介绍了患有MODY 5的家庭成员,他们出现肝酶升高但无病因。这些兄弟姐妹及其母亲在位于17q12的基因中存在一个点突变p.Arg235Trp。该变异与伴有肾囊肿的常染色体显性MODY 5相关,也称为肾囊肿和糖尿病综合征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3f7/10550013/13e9536eda46/ac9-10-e01150-g001.jpg

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