Diagnosis and Treatment of MODY: An Updated Mini Review

Abegail Tshivhase,Shanel Raghubeer,Tandi Matsha

doi:10.3390/app11209436

Abstract

Maturity-Onset Diabetes of the Young (MODY) is the most common form of monogenic diabetes resulting from a single gene mutation. It is characterized by mild hyperglycemia, autosomal dominant inheritance, early onset of diabetes (<25 years), insulin resistance, and preservation of endogenous insulin secretion. Currently, 14 MODY subtypes have been identified, with differences in incidence, clinical features, diabetes severity and related complications, and treatment response. This type of diabetes is mostly misdiagnosed as either type 1 or type 2 diabetes mellitus because it is difficult to differentiate between these forms of diabetes due to clinical similarities, the high cost of genetic testing, and lack of awareness. As a result, thousands of patients are not receiving appropriate treatment. Accurate diagnosis would allow for more effective therapeutic management and treatment strategies that are distinct from those used for type 1 and type 2 diabetes. This review serves to explore MODY subtypes, diagnosis, and treatment, and increase awareness of MODY incidence.

Highlights

Maturity-Onset Diabetes of the Young (MODY) is a monogenic type of diabetes, resultant from single gene mutations [1]
Subtypes, mutations in hepatocyte nuclear factor 1-α (HNF1A), glucokinase (GCK), hepatocyte nuclear factor 4A (HNF4A), and hepatocyte nuclear factor 1B (HNF1B) are the underlying cause in more than 95% of MODY cases; the other mutations are uncommon in the Caucasian population [2,8,9,10]
MODY patients are often misdiagnosed with either T1DM or T2DM, resulting in patients receiving inappropriate treatment [26]. This could be due to overlapping clinical features, which are more common in diabetes, the high cost of genetic testing, and clinicians’ lack of awareness [29]

Summary

Introduction

Maturity-Onset Diabetes of the Young (MODY) is a monogenic type of diabetes, resultant from single gene mutations [1]. Among the 14 MODY subtypes, mutations in hepatocyte nuclear factor 1-α (HNF1A), glucokinase (GCK), HNF4A, and HNF1B are the underlying cause in more than 95% of MODY cases; the other mutations are uncommon in the Caucasian population [2,8,9,10]. These mutations differ in terms of prevalence, clinical features, the severity of diabetes and related complications, and treatment response. Each mutation encodes proteins involved in glucose homeostasis of pancreatic β-cells [11,12]

Diagnosis of MODY

Significance of MODY Diagnosis

MODY Subtypes and Their Treatments

Findings

Conclusions