scholarly journals Maturity-onset diabetes of the young: difficult differential diagnosis

2020 ◽  
Vol 4 (6) ◽  
pp. 372-376
Author(s):  
K.G. Lobanova ◽  
◽  
V.V. Titova ◽  
K.S. Dolgova ◽  
◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Type 1 Diabetes ◽  
Differential Diagnosis ◽  
Genetic Testing ◽  
Molecular Genetic ◽  
Maturity Onset Diabetes ◽  
Molecular Genetic Testing ◽  
Onset Diabetes

Maturity-onset diabetes of the young (MODY) is a monogenic variant of diabetes characterized by the primary dysfunctions of pancreatic β-cells. MODY accounts for 1–2% of all variants of diabetes. MODY is generally associated with HNF1A gene mutation. The hallmarks of MODY are an autosomal dominant inheritance pattern, the onset of the disease in the young age, stable C-peptide level over a long period, the lack of the autoantibodies considered as the markers of diabetes, and the lack of ketoacidosis at disease onset. Considering that MODY manifests in children and young individuals, these patients are commonly diagnosed with type 1 diabetes. However, due to the atypical clinical signs of type 1 diabetes and the similarity of this disease to type 2 diabetes, these patients are often misdiagnosed with type 2 diabetes. This case report illustrates the differential diagnosis of diabetes in a patient with unusual disease course. The attention is focused on the features of MODY course. The indications to molecular genetic testing to verify the diagnosis are addressed.KEYWORDS: diabetes, maturity-onset diabetes of the young, monogenic diabetes, sulfonylureas, molecular genetic testing, LADA, pancreatogenic diabetes.FOR CITATION: Lobanova K.G., Titova V.V., Dolgova K.S. Maturity-onset diabetes of the young: difficult differential diagnosis. Russian Medical Inquiry. 2020;4(6):372–376. DOI: 10.32364/2587-6821-2020-4-6-372-376.

Maturity-onset diabetes of the young (MODY): an update

2015 ◽  
Vol 28 (3-4) ◽  
Author(s):  
Ahmet Anık ◽  
Gönül Çatlı ◽  
Ayhan Abacı ◽  
Ece Böber
Keyword(s):  
Type 2 Diabetes ◽  
Type 1 Diabetes ◽  
Young Adults ◽  
Maturity Onset Diabetes ◽  
Monogenic Disorders ◽  
Onset Diabetes ◽  
Dependent Form ◽  
Insulin Dependent

AbstractMaturity-onset diabetes of the young (MODY) is a group of monogenic disorders characterized by autosomal dominantly inherited non-insulin dependent form of diabetes classically presenting in adolescence or young adults before the age of 25 years. MODY is a rare cause of diabetes (1% of all cases) and is frequently misdiagnosed as Type 1 diabetes (T1DM) or Type 2 diabetes (T2DM). A precise molecular diagnosis is essential because it leads to optimal treatment of the patients and allows early diagnosis for their asymptomatic family members. Mutations in the glucokinase (

scholarly journals Childhood obesity complicating the differential diagnosis of maturity-onset diabetes of the young and type 2 diabetes

2007 ◽  
Vol 0 (0) ◽  
pp. 071127170524002-??? ◽  
Author(s):  
Naomi Weintrob ◽  
Eti Stern ◽  
Yaffa Klipper-Aurbach ◽  
Moshe Phillip ◽  
Galia Gat-Yablonski
Keyword(s):  
Type 2 Diabetes ◽  
Differential Diagnosis ◽  
Childhood Obesity ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes

Maturity onset diabetes of youth (MODY) in Turkish children: sequence analysis of 11 causative genes by next generation sequencing

2016 ◽  
Vol 29 (4) ◽  
Author(s):  
Sebahat Yılmaz Ağladıoğlu ◽  
Zehra Aycan ◽  
Semra Çetinkaya ◽  
Veysel Nijat Baş ◽  
Aşan Önder ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Next Generation Sequencing ◽  
Point Mutations ◽  
Maturity Onset Diabetes ◽  
Turkish Children ◽  
Onset Diabetes ◽  
Molecular Studies ◽  
Generation Sequencing

AbstractMaturity-onset diabetes of the youth (MODY), is a genetically and clinically heterogeneous group of diseasesand is often misdiagnosed as type 1 or type 2 diabetes. The aim of this study is to investigate both novel and proven mutations of 11A panel of 11We identified 28 (65%) point mutations among 43 patients. Eighteen patients haveThis is the first study including molecular studies of 11

scholarly journals Improving clinical utility of GAD65 autoantibodies by electrochemiluminescence assay and clinical phenotype when identifying autoimmune adult-onset diabetes

Diabetologia ◽  
2021 ◽  
Author(s):  
Yong Gu ◽  
Xiaofan Jia ◽  
Tanwi Vartak ◽  
Dongmei Miao ◽  
Fran Dong ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Type 1 Diabetes ◽  
Clinical Utility ◽  
Insulin Treatment ◽  
Clinical Phenotype ◽  
Adult Onset ◽  
Onset Diabetes ◽  
Adult Onset Diabetes

Abstract Aims/hypothesis It is important to differentiate the two major phenotypes of adult-onset diabetes, autoimmune type 1 diabetes and non-autoimmune type 2 diabetes, especially as type 1 diabetes presents in adulthood. Serum GAD65 autoantibodies (GADA) are the most sensitive biomarker for adult-onset autoimmune type 1 diabetes, but the clinical value of GADA by current standard radiobinding assays (RBA) remains questionable. The present study focused on the clinical utility of GADA differentiated by a new electrochemiluminescence (ECL) assay in patients with adult-onset diabetes. Methods Two cohorts were analysed including 771 diabetic participants, 30–70 years old, from the Action LADA study (n = 6156), and 2063 diabetic participants, 20–45 years old, from the Diabetes in Young Adults (DiYA) study. Clinical characteristics of participants, including requirement of early insulin treatment, BMI and development of multiple islet autoantibodies, were analysed according to the status of RBA-GADA and ECL-GADA, respectively, and compared between these two assays. Results GADA was the most prevalent and predominant autoantibody, >90% in both cohorts. GADA positivity by either RBA or ECL assay significantly discriminated clinical type 1 from type 2 diabetes. However, in both cohorts, participants with ECL-GADA positivity were more likely to require early insulin treatment, have multiple islet autoantibodies, and be less overweight (for all p < 0.0001). However, clinical phenotype, age at diagnosis and BMI independently improved positive predictive value (PPV) for the requirement of insulin treatment, even augmenting ECL-GADA. Participants with GADA detectable by RBA, but not confirmed by ECL, had a phenotype more similar to type 2 diabetes. These RBA-GADA positive individuals had lower affinity GADA compared with participants in which GADA was confirmed by ECL assay. Conclusions/interpretation Detection of GADA by ECL assay, given technical advantages over RBA-GADA, identified adult-onset diabetes patients at higher risk of requiring early insulin treatment, as did clinical phenotype, together allowing for more accurate clinical diagnosis and management. Graphical abstract

scholarly journals Pregnancy Complicated by Maternal MODY 3 and Paternal MODY 2 Diabetes and Subsequent Rapidly Falling Insulin Requirement

2018 ◽  
Vol 2018 ◽  
pp. 1-5 ◽  
Author(s):  
Anastasia Mikuscheva ◽  
Adel Mekhail ◽  
Benjamin J. Wheeler
Keyword(s):  
Type 2 Diabetes ◽  
Pregnant Woman ◽  
Preterm Labour ◽  
Insulin Requirement ◽  
Monogenic Diabetes ◽  
Maturity Onset Diabetes ◽  
Insulin Requirements ◽  
Onset Diabetes

Background. ‘Maturity-Onset Diabetes of the Young’ (MODY) or monogenic diabetes accounts for approximately 1–2% of diabetes and is frequently misdiagnosed as type 1 or type 2 diabetes. Here we report a case of a 19-year-old pregnant woman with a MODY 3 diabetes expecting a child to a father with MODY 2 diabetes. Possible inheritance scenarios are described and the implications of these scenarios on the pregnancy and infant are discussed. In addition, the pregnancy was complicated by drastically falling insulin requirements in the mother in the 3rd trimester as well as preterm labour and delivery at 33+4 weeks of gestation.

scholarly journals Maturity-onset diabetes of the young (MODY): Recognition is the need of the hour.

JMS SKIMS ◽  
2019 ◽  
Vol 22 (2) ◽  
Author(s):  
Javaid Bhat ◽  
Shariq Rashid Masoodi ◽  
Moomin Hussain Bhat
Keyword(s):  
Type 2 Diabetes ◽  
Cell Function ◽  
Early Adulthood ◽  
Genetic Diagnosis ◽  
Dominant Mode ◽  
Maturity Onset Diabetes ◽  
Primary Defect ◽  
Onset Diabetes

Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes that is characterized by autosomal dominant mode of inheritance, an early onset diabetes, mostly mild hyperglycemia as a result of a primary defect in pancreatic β-cell function. MODY represents less than 2% of all diabetes cases and is commonly misdiagnosed as type 1 or type 2 diabetes mellitus.  It is a genetically heterogeneous form of monogenic diabetes that is caused by mutations occurring in a number of different genes thus tends to cause a slightly different variant of diabetes. At least 14 MODY subtypes with distinct genetic etiologies have been identified to date. MODY is typically diagnosed during late childhood, adolescence, or early adulthood and is usually observed to develop in adults during their late 50's. One of the main drawbacks in its diagnosis is that many people with MODY are misdiagnosed as having type 1 or type 2 diabetes owing to low index of suspicion and lack of availability of genetic testing at affordable cost. However, a molecular and genetic diagnosis results in a better treatment and could also help in identifying other family members with MODY. A high index of suspicion is required to diagnose cases of MODY as misdiagnosis and inappropriate treatment may have a significant impact on quality of life (QOL) with increased cost and unnecessary treatment with insulin.

scholarly journals Long-Term Complications and Mortality in Young-Onset Diabetes: Type 2 diabetes is more hazardous and lethal than type 1 diabetes

Diabetes Care ◽  
2013 ◽  
Vol 36 (12) ◽  
pp. 3863-3869 ◽  
Author(s):  
M. I. Constantino ◽  
L. Molyneaux ◽  
F. Limacher-Gisler ◽  
A. Al-Saeed ◽  
C. Luo ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Type 1 Diabetes ◽  
Diabetes Type 2 ◽  
Diabetes Type ◽  
Young Onset ◽  
Onset Diabetes ◽  
Complications And Mortality
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