一名患有非家族性青年型成年发病型糖尿病3型的年轻女性的肝腺瘤病
Hepatic adenomatosis in a young woman with non-familial maturity-onset diabetes of the young type 3.
作者信息
Miles David A, Holmes Signy, Minuk Gerald Y
机构信息
Section of Hepatology, Department of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada.
Department of Radiology and Rady College of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada.
出版信息
Can Liver J. 2021 Aug 9;4(3):328-331. doi: 10.3138/canlivj-2020-0010. eCollection 2021 Summer.
Abstract
Hepatic adenomatosis (HA) is a rare condition in which multiple adenomas exist in an otherwise healthy liver. The most common subtype (H-HA) is associated with bi-allelic, somatic hepatic nuclear factor 1-alpha (HNF1A) mutations. Maturity-onset diabetes of the young type 3 (MODY3) is most often seen in young individuals with heterozygous, germline mutations in HNF1A. In this report, we describe a 17-year-old woman with H-HA and non-familial MODY3.
摘要
肝腺瘤病（HA）是一种罕见的病症，即在其他方面健康的肝脏中存在多个腺瘤。最常见的亚型（H-HA）与双等位基因、体细胞肝细胞核因子1α（HNF1A）突变相关。年轻型3型成年发病型糖尿病（MODY3）最常见于携带HNF1A杂合种系突变的年轻人。在本报告中，我们描述了一名患有H-HA和非家族性MODY3的17岁女性。
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