Liver Adenomatosis and Maturity-Onset Diabetes of the Young (MODY) Type 3 Due to HNF1A Mutation Not Previously Described

Abstract

The term MODY (maturity-onset diabetes of the young) is allocated for a heterogeneous subgroup of different diseases, characterized by its autosomal dominant inheritance, with high penetrance and early expression in childhood and early youth. They are due to genetic defects in factors involved in the formation and function of pancreatic beta cells. MODY 3 diabetes is the most common in adults. Liver adenomatosis is a rare disease. Diagnosis requires the presence of more than ten adenomas in a healthy parenchyma, the absence of liver storage diseases, and nor prior steroid treatment. In 2002 Bluteau and colleaguesfind a common genetic defect for both pathologies, HNF1A genes mutation. So far just five unrelated families with liver adenomatosis and MODY 3 diabetes due to HNF1A mutation have been reported. To our knowledge only four cases suffering from both pathologies under the age of 18 have been previously reported, and the mutation detected in all of them is P291fs in exon 4 of HNF1A gene. We present the case of a teenager with liver adenomatosis and MODY 3 diabetes, carrying a not previously described HNF1A genes mutation.




J Endocrinol Metab. 2014;4(3):81-85
doi: http://dx.doi.org/10.14740/jem218w