%0 Case Reports
%T A Woman With HNF1A-Associated Monogenic Diabetes Treated Successfully With Repaglinide Monotherapy.
%A Cuan K
%A Bass IR
%J AACE Clin Case Rep
%V 10
%N 2
%D 2024 Mar-Apr
%M 38523849
暂无%R 10.1016/j.aace.2023.12.003
%X UNASSIGNED: Monogenic diabetes is a rare type of diabetes that is commonly misdiagnosed as type 1 or 2 diabetes mellitus, which adversely impacts patient care. Such cases are particularly challenging given the heterogeneity in presentation and overlap with other types of diabetes. As the sole use of meglitinides, especially repaglinide, to treat HNF1A-associated monogenic diabetes has been rarely reported in a few other observational studies, we describe a patient who was treated successfully with repaglinide.
UNASSIGNED: A 38-year-old woman with type 1 diabetes mellitus, congenital deafness, chronic kidney disease, and retinopathy presented with difficulty controlling her blood glucose levels. Although initially treated with insulin, she had periods of noncompliance with insulin without experiencing diabetic ketoacidosis. Although on insulin therapy, she experienced multiple episodes of hypoglycemia. The laboratory tests showed a hemoglobin A1c level of 10.8%, c-peptide level of 2.7 ng/mL (1.1-4.4 ng/mL), glucose level of 192 mg/dL, creatinine level of 1.23 ng/dL, and severely increased microalbumin-to-creatinine ratio of 638 mg/g (normal range, 0-29 mg/g). Pancreatic autoantibodies were negative. Genetic testing revealed a diagnosis of HNF1A-associated monogenic diabetes (c. 1340C>T (p.P447L)). She was ultimately treated with repaglinide after trials of sulfonylureas and dipeptidyl peptidase 4 inhibitors led to frequent hypoglycemia and a significant increase in the hemoglobin A1c level, respectively.
UNASSIGNED: This case highlights the importance of correctly diagnosing monogenic diabetes and reports the successful use of repaglinide to treat HNF1A-associated monogenic diabetes.
UNASSIGNED: Patients with HNF1A-associated monogenic diabetes who do not achieve euglycemia with sulfonylureas and insulin may be successfully treated with repaglinide monotherapy.