Veerareddy Sudiksha, Reddy Saigopala, Barreto Mauricio, Vedherey Niharika, Gopalareddy Vani V
Mediciti Institute of Medical Sciences, Telangana, India.
University of North Carolina School of Medicine, Chapel Hill, NC.
ACG Case Rep J. 2023 Oct 3;10(10):e01150. doi: 10.14309/crj.0000000000001150. eCollection 2023 Oct.
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.
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。
