ODP186 Difficulties in diagnosing MODY: clinical case

Abstract

Abstract Background MODY is one of the monogenic forms of diabetes mellitus, which includes 14 subtypes with different course and clinical picture. Final clinical diagnosis involves a molecular genetic study and is a key factor in successful treatment. Clinical case. Patient P., 33 years old, complained of aggravation of the condition after and during the dialysis procedure: general weakness, blood pressure rose to 220 mmHg, after the procedure a drop to 110-120 mmHg, lack of effect from hypertensive drugs, headaches. In 2004, type 1 diabetes mellitus was diagnosed based on complaints of polydipsia, polyuria, and fasting glycemia up to 9 mmol/l. Basic bolus insulin therapy was prescribed. Patient noted a frequent development of hypoglycemic conditions and independently canceled insulin therapy. For a long time the patient went without hypoglycemic therapy. In 2016, baseline insulin therapy was prescribed again, which resulted with frequent episodes of hypoglycemia resuming. In 2019, a diagnosis of MODY type 3 was made without medical and genetic counseling. Due to the high level of C-peptide 3057.1 pmol /L (160-1100), Repaglinide 0.5 mg was prescribed to be taken 3 times a day. Against the background of this treatment, compensation and stabilization of the condition has been observed. Family history: the mother has diabetes mellitus since the age of 22, manifested during pregnancy; receives Glibenclamide with a positive effect. Since 2011, diabetic distal sensorimotor polyneuropathy of the upper and lower extremities, diabetic foot syndrome, neuropathic form have been identified. Ulcerative defect of the I degree. Long-term non-healing trophic ulcer of the right foot for 6 years. In 2016, chronic kidney disease C5 A3 was detected. At the moment, the patient is on program dialysis. Complications of nephropathy were verified – secondary hyperparathyroidism, osteoporosis, moderate nephrogenic anemia, symptomatic nephrogenic arterial hypertension of grade 3, risk 4. In 2018, proliferative diabetic retinopathy of both eyes was detected. Total recurrent hemophthalmos of the right eye, subtotal hemophthalmos of the left eye. In 2021, autonomic neuropathy, gastrointestinal form and autonomic cardiovascular form were verified. The patient underwent a molecular genetic study for the identification of pathogenic mutations in the HNF1A gene, however, according to the study, mutations in the HNF1A gene were not detected. Thus, the diagnosis of MODY type 3 has not been confirmed. It is necessary to conduct a further diagnostic search for the type of MODY in order to make a final diagnosis. Conclusion This clinical case demonstrates the importance of a personalized approach to each patient, as well as conducting a molecular genetic study to make a final clinical diagnosis and prescribe timely pathogenetic therapy. Presentation: No date and time listed