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首页> 外文期刊>Journal of diabetes. >Liver adenomatosis in patients with hepatocyte nuclear factor‐1 alpha maturity onset diabetes of the young ( HNF1A ‐MODY): Clinical, radiological and pathological characteristics in a French series
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Liver adenomatosis in patients with hepatocyte nuclear factor‐1 alpha maturity onset diabetes of the young ( HNF1A ‐MODY): Clinical, radiological and pathological characteristics in a French series

机译：肝腺上皮增生患者的肝细胞核转录因子1α成熟度发病糖尿病年轻的(地理HNF1A MODY):临床、放射学在法国和病理特征系列

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Abstract Background Liver adenomatosis (LA) is a rare disease resulting from biallelic inactivation of the hepatocyte nuclear factor‐1 alpha ( HNF1A ) gene, which induces the proliferation of adenoma cells in liver parenchyma. Liver adenomatosis has only been documented in case reports from patients carrying a HNF1A germline mutation. We have evaluated the frequency of LA among a large cohort of patients with HNF1A ‐maturity onset diabetes of the young (MODY), previously termed “MODY3,” and herein describe its clinical, radiological, and pathological characteristics. Methods In all, 137 HNF1A ‐MODY subjects from 74 families were screened by liver ultrasonography in 13 centers, and 15 additional cases of LA were later included in the series. Liver adenomatosis was confirmed by liver computed tomography, magnetic resonance imaging (MRI), and/or histopathology. Results Among 137 carriers of an HNF1A mutation, 9 patients (6.5%) from seven families were diagnosed with LA. Diabetes mellitus was present in 87.5% of patients with LA. In 25% of patients, LA was diagnosed due to intra‐abdominal or intratumoral bleeding. Liver biochemistry was near normal in all patients. Liver imaging showed adenomas of various sizes and numbers. On MRI, most nodules had the radiological characteristics of steatotic adenomas. Histopathological confirmation of LA was available in 13 cases, and these adenomas were mostly steatotic. Surgery was initially performed in 37.5% of patients, and liver disease progression was observed in 30%. No disease progression was observed in 14 pregnancies. Conclusions The frequency of LA in a cohort of screened HNF1A ‐MODY patients and the high incidence of LA progression and/or hemorrhage warrants systematic screening for liver adenomatosis in HNF1A ‐MODY families.
机译：抽象背景肝腺瘤病(LA)从biallelic罕见的疾病产生失活的肝细胞的核因子1α(HNF1A)基因,导致的肝腺瘤细胞的增殖薄壁组织。从病人携带记录在病例报告一个HNF1A生殖系突变。拉一大群患者的频率与HNF1A成熟度发作糖尿病的年轻(们),以前称为“MODY3”和描述其临床、放射学和病理特点。HNF1A MODY主题来自74个家庭肝脏超声筛查的13个中心,另外和15例LA后来被包括在内在系列。肝脏ct、磁共振成像(MRI),和/或组织病理学。在137年HNF1A突变的携带者,9七个家庭的患者(6.5%)诊断为洛杉矶。在87.5%的患者。被诊断出由于内部检测腹部或瘤内流血。附近的所有患者的正常。各种大小的腺瘤和数字。大部分结节的辐射特性的脂肪腺瘤。确认的是在13例,这些腺瘤大多是脂肪。最初在37.5%的病人肝脏疾病进展中观察到30%。疾病进展在14怀孕。群HNF1A MODY病人和应承担的筛选LA进展和/或高发病率出血认股权证系统筛查肝脏腺瘤病HNF1A MODY家庭。

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