Endocrine Abstracts

Introduction: Maturity-onset diabetes of the young (MODY) is a form of diabetes mellitus transmitted by an autosomal dominant mode of inheritance, usually diagnosed before the age of 25 years. Non-alcoholic fatty liver disease (NAFLD) is a chronic liver disease, particularly closely related with insulin resistance and type 2 diabetes mellitus. MODY and NAFLD combination has rarely been described in the literature.

Case: A 25-year-old women was admitted to the Hospital of Lithuanian University of Health Sciences, Kauno klinikos to verify diabetes type. She has been diagnosed with type 1 diabetes a year ago. Despite dietary control and a basal-bolus insulin therapy, her glycaemic control was inadequate with glycosylated haemoglobin (HbA1c) 8.8%. Blood tests for islet-cell antibodies and glutamic acid decarboxylase autoantibodies were negative (anti GAD65 0.25 IU/ml (normal range 0–1), anti IA2 0.05 U/ml (0–1), anti-insulin 4.5% (<6.4), with enough insulin secretion (C-peptide before eating 1.49 nmol/l (0.36–1.09)). A missense GCK gene mutations were confirmed by genetic (NM_000162.3(GCK):c.[679+38T>C]); [679+38T>C]), suggesting diagnosis of MODY 2 diabetes. The insulin therapy was gradually withdrawn and sulfonylurea was introduced. Patient had no history or risk factors of liver disease, with body mass index (BMI) 27.6 kg/m² and minor dyslipidaemia. Her liver function tests showed moderate elevations of liver enzymes (aspartate aminotransferase (AST) 147 U/l (0–35), alanine aminotransferase (ALT) 143 U/l (0–45), γ-glutamyl transferase (GGT) 168 U/l (0–55)), with normal bilirubin’s levels. Serum hepatitis markers, autoantibody screenings were negative, ceruloplasmin was normal (0.36 g/l (0.22–0.58)). There was a moderate increase in ferritin (354.4 μg/l (20–275)) with normal saturation (34% (15–45)). A liver ultrasound showed increased echogenicity with diffuse fatty infiltration confirming diagnosis of NAFLD. Despite 3 months of treatment by 280 mg silymarin and statins, her liver enzymes remained elevated. Finally, insulin therapy was resumed, because with dietary control and 120 mg of gliclazide, glycaemic control persisted to be inadequate. After 6 months, liver enzymes decreased and glycaemic control improved.

Conclusions: Coexistence of MODY and NAFLD is rare and it is hard to distinguish a causative relationship. Therefore, research and new management strategies for this pathology are urgently needed.