Open Access肝细胞核因子‐1α突变的青少年发病成年型糖尿病(HNF1A‐MODY)患者中发生的肝细胞腺瘤病:法国系列研究中的临床、放射学与病理学特征
Author(s) -
Haddouche Aini,
BellanneChantelot Christine,
Rod Anne,
Fournier Luc,
Chiche Laurence,
Gautier JeanFrancois,
Timsit Jose,
Laboureau Sandrine,
Chaillous Lucy,
Valero Rene,
Larger Etienne,
Jeandidier Nathalie,
Wilhelm JeanMarie,
Popelier Marc,
Guillausseau PierreJean,
Thivolet Charles,
Lecomte Pierre,
Benhamou PierreYves,
Reznik Yves
Publication year - 2020
Publication title -
journal of diabetes
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.949
H-Index - 43
eISSN - 1753-0407
pISSN - 1753-0393
DOI - 10.1111/1753-0407.12959
Subject(s) - hnf1a , medicine , maturity onset diabetes of the young , hepatocellular adenoma , diabetes mellitus , fatty liver , gastroenterology , steatosis , adenoma , pathological , hepatocyte nuclear factors , pathology , disease , endocrinology , type 2 diabetes , biochemistry , gene expression , chemistry , gene
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.