Diagnosis of hepatocellular adenoma in men before onset of diabetes in HNF1A‐MODY: Watch out for winkers
| Autor: | Vincent E de Meijer, Robbert J. de Haas, Jolien S. Klein Wassink-Ruiter, Titia M Vriesendorp, Martijn P D Haring, Annette S. H. Gouw |
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| Přispěvatelé: | Groningen Institute for Organ Transplantation (GIOT), Center for Liver, Digestive and Metabolic Diseases (CLDM) |
| Rok vydání: | 2019 |
| Předmět: |
Adult
Male endocrine system medicine.medical_specialty hepatocellular adenoma Gastroenterology Adenoma Liver Cell Malignant transformation 03 medical and health sciences 0302 clinical medicine Germline mutation Diabetes mellitus Internal medicine HNF1A-MODY medicine Humans LIVER ADENOMATOSIS Genetic Testing Hepatocyte Nuclear Factor 1-alpha Family Health HNF1A‐MODY MODY3 Hepatology medicine.diagnostic_test MUTATIONS business.industry Liver Neoplasms Brief Definitive Report I ALPHA-GENE treatment algorithm Hepatocellular adenoma medicine.disease Benign liver tumours HNF1A Hepatocyte nuclear factors Diabetes Mellitus Type 2 030220 oncology & carcinogenesis Liver biopsy Mutation Brief Definitive Reports 030211 gastroenterology & hepatology business |
| Zdroj: | Liver International, 39(11). Wiley Liver International |
| ISSN: | 1478-3231 1478-3223 |
| DOI: | 10.1111/liv.14235 |
| Popis: | Hepatocyte nuclear factor 1A (HNF1A) maturity-onset diabetes of the young (MODY) is a monogenetic, autosomal dominantly inherited form of diabetes. HNF1A-MODY is associated with HNF1A-inactivated hepatocellular adenoma (H-HCA) formation. Hepatocellular adenoma (HCA) are benign liver tumours and related complications are rare but serious: hepatic haemorrhage and malignant transformation. Guidelines recommend resection of all HCA in men and do not take any co-occurring metabolic disorders into account. We report a family with HCA preceding diabetes mellitus. Male index patient presented with numerous, irresectable HCA. After initial diagnostic and aetiologic uncertainty HNF1A germline mutation c.815G>A (p.Arg272His) was confirmed 8 years later. No HCA-related complications occurred. His diabetic mother was diagnosed with HCA after severe hepatic haemorrhage years before. HNF1A-MODY should be considered in (non-)diabetic (male) patients with H-HCA. We advocate liver biopsy and, if necessary, genetic analysis to precede any intervention for HCA in males and screening for HCA in HNF1A-MODY patients. |
| Databáze: | OpenAIRE |
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