Quality of life in monogenic diabetes (a case report)

Abstract

Monogenic diabetes in children mostly results from muta-tions in genes that regulate beta-cell function. It may be dominantly or recessively inherited or may be a de novo mutation and hence a spontaneous case. Quality of life is important in management of patient with monogenic diabetes. Objective is to analyze quality of life in a patient with monogenic diabetes. A-19year old, girl, 29.5 kg, sufferred from polyuria, polydipsia, and polyphagia. Family history of diabetes was positive. Physical examination revealed non obese, with colateral vein, and hepatosplenomegaly. Laboratory exami-nation revealed fasting blood glucose 275 mg/dL, hemoglobin A 1C /A1C 10.3%, C-peptide 4.2ng/mL (nor-mal:0.9-7.1ng/mL), ALT:110 U/L, AST:115 U/L; HDL:70 μg/dL, LDL:57mg/dL, total cholesterol:319mg/dL, and triglyceride:2030 mg/dL. Liver biopsy revealed hepatostea-tosis. She was diagnosed with monogenic diabetes and Nonalcoholic Steatohepatitis (NASH). Patient was given glibenclamide 5 mg twice daily; insulin detemir 14 IU; metformin 500 mg twice daily, with uncooked corn starch. After three months of treatment random blood glucose became 132 mg/dL and A1C became 7.7%; insulin was stopped. Seven months later random blood glucose increased to 287.5 mg/dL, ALT: 204 U/L, and AST: 257 U/L. Insulin was readminestered and glibenclamide were increased to three times daily. A1C evaluation revealed 5.7%. Diabetic nephropathy (DN) occurred, but after a month of captopril, proteinuria was improved from 2.8 g/24 hrs to 1.5 g/24 hrs. Diet for DN was put to therapy. No retinopathy was found. Measurement of qual-ity of life using Diabetes Quality of life (DQOL) revealed satisfaction with life 65.8%, impact of diabetes 55%, worries about diabetes 50.9%, and overall her health was poor. Conclusion is hyperglycemia, nonalcoholic steatohe-patitis, hypertriglycemia, and diabetic nephropathy reported as clinical course of monogenic diabetes. The quality of life revealed satisfaction.