A case report of Maturity-onset diabetes of the young 12: large fragment deletion in ABCC8 gene with literature review.

ABSTRACT:

Background

Maturity-onset diabetes of the young (MODY) is one type of monogenic diabetes that is often misdiagnosed. The case refers to a case of maturity-onset diabetes of the young 12 (MODY12) who was misdiagnosed with type 1 diabetes (T1DM), and this was the first case of MODY12 induced by a large deletion of the ATP-binding cassette transporter C8 gene (ABCC8). Additionally, a literature review was conducted regarding the pathological mechanisms, clinical manifestations, diagnosis, and treatment of ABCC8-mutated diabetes.

Case description

A 22 years old, male patient had been misdiagnosed with T1DM for 4 years and had experienced poor glucose control with multiple daily insulin injections. Their glycated hemoglobin (HbA1c) was 12.9% at the time of admission

SUBMITTER: Zhang Y 

PROVIDER: S-EPMC9011213 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature