年轻女性伴非家族性成熟型糖尿病3型的肝腺瘤病

Canadian liver journal Pub Date : 2021-08-09 eCollection Date: 2021-01-01 DOI:10.3138/canlivj-2020-0010
David A Miles, Signy Holmes, Gerald Y Minuk
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引用次数: 1

摘要

肝腺瘤病(HA)是一种罕见的情况下,多个腺瘤存在于其他健康的肝脏。最常见的亚型(H-HA)与双等位基因、体细胞肝核因子1- α (HNF1A)突变有关。年轻3型糖尿病(MODY3)最常见于HNF1A杂合种系突变的年轻个体。在这个报告中,我们描述了一个17岁的女性H-HA和非家族性MODY3。
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Hepatic adenomatosis in a young woman with non-familial maturity-onset diabetes of the young type 3.

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.

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