EP699 - ECE_2343 - Mature onset of diabetes of young in paediatric patients - case series presentation
Abstract
Maturity-Onset Diabetes of the Young (MODY) is a group of rare, inherited types of diabetes caused by a single gene mutation, typically appearing before age of 25, characterized by positive family history and lack of autoantibodies.
The genetic testing for MODY was requested for patients with hyperglycaemia, positive family history and lack of antibodies. Out of 6 suspected patients, 4 were diagnosed with MODY, 3 boys and 1 girl. First patient, a boy aged 12 years in his annual checkup had fasting glucose levels 8 mmol/L. During oral glucose test (OGTT), glycaemia in 120. minute was 8.3mmol/L, HbA1c was 7.5%, C peptide 1.57 ng/mL. He was started with Metformin. After 2 years, current HbA1c is 5.4% and C peptide is 2.53 ng/mL. A heterozygous pathogenic variant in the HNF4A gene (c.734G>A; (p.Arg245His)) associated with MODY type 1 was detected. Second patient, a 4 year old boy was diagnosed with systemic juvenile idiopathic diabetes (JIA) and received systemic corticosteroid and immunosuppressive therapy. During therapy, fasting glucose levels were above 7mmol/L, C peptide 1.2 ng/mL and HbA1c 5.9%. Dietary changes were advised. The therapy for JIA lasted for 2 years. At the age of 11 years, fasting glycaemia was 7.3 mmol/L, glycaemia after 2 hours in OGTT was 8.4 mmol/L, HbA1c was 6.5%, C peptide 1.3 ng/mL. Metformin was started. Current laboratory findings at the age of 13 years are HbA1c 6.3%, C peptid 1.41 ng/mL. A heterozygous pathogenic variant in the GCK gene (missense…
How strong is the evidence?
Evidence Hub reads this as a case series, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health. Reported size: 6 participants or records.
Read the paper
Related studies
- Metformin as an adjuvant in breast cancer treatment
- Metformin Lysosomal Targeting: A Novel Aspect to Be Investigated for Metformin Repurposing in Neurodegenerative Diseases?
- Aberrant HSF1 signaling activation underlies metformin amelioration of myocardial infarction in mice
- Metformin induces ZFP36 by mTORC1 inhibition in cervical cancer-derived cell lines
- Protein Interaction Network for Identifying Vascular Response of Metformin (Oral Antidiabetic)
- Preventing Long COVID With Metformin
Go deeper in Evidence Hub
Evidence Hub adds a study data sheet (design, sample size, evidence level, key numbers), an AI summary and a chat grounded in the paper's text.