scholarly journals Monogenic diabetes and pregnancy

2015 ◽  
Vol 8 (3) ◽  
pp. 114-120 ◽  
Author(s):  
Rinki Murphy
Keyword(s):  
Monogenic Diabetes ◽  
Nuclear Factor ◽  
Hepatocyte Nuclear Factor ◽  
Diabetes In Pregnancy ◽  
Specific Therapy ◽  
Monogenic Forms Of Diabetes ◽  
Gene Defects ◽  
Practical Implications

Monogenic diabetes is frequently mistakenly diagnosed as either type 1 or type 2 diabetes, yet accounts for approximately 1–2% of diabetes. Identifying monogenic forms of diabetes has practical implications for specific therapy, screening of family members and genetic counselling. The most common forms of monogenic diabetes are due to glucokinase ( GCK), hepatocyte nuclear factor ( HNF) -1A and HNF-4A, HNF-1B, m.3243A>G gene defects. Practical aspects of their recognition, diagnosis and management are outlined, particularly as they relate to pregnancy. This knowledge is important for all physicians managing diabetes in pregnancy, given this is a time when previously unrecognised monogenic diabetes may be uncovered with careful attention to atypical features of diabetes misclassified as type 1, type 2, or gestational diabetes.

scholarly journals Assessment of Newly Proposed Clinical Criteria to IdentifyHNF1AMODY in Patients with an Initial Diagnosis of Type 1 or Type 2 Diabetes Mellitus

2016 ◽  
Vol 2016 ◽  
pp. 1-3 ◽  
Author(s):  
Malgorzata Grzanka ◽  
Bartlomiej Matejko ◽  
Magdalena Szopa ◽  
Beata Kiec-Wilk ◽  
Maciej T. Malecki ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Oral Treatment ◽  
Insulin Requirement ◽  
Diagnostic Techniques ◽  
Nuclear Factor ◽  
Maturity Onset Diabetes ◽  
Hepatocyte Nuclear Factor ◽  
Clinical Criteria

The most common form of maturity-onset diabetes of the young (MODY) is caused by mutations in the hepatocyte nuclear factor 1A (HNF1A) gene. However, mostHNF1Amutation-carriers are initially misdiagnosed with type 1 (T1DM) or type 2 (T2DM) diabetes mellitus; hence, they often receive nonoptimal treatment. The aim of our study was to test newly proposed clinical criteria for the identification ofHNF1AMODY in patients with a diagnosis of T1DM or T2DM. To achieve this, the following criteria to preselect patients for screening were used: for T1DM: TDIR (total daily insulin requirement) > 0.3 IU of insulin/kg and the percentage of basal insulin > 30% of TDIR; for T2DM: sulphonylurea- (SU-) based oral treatment (monotherapy or combined with Metformin) > 15 years and BMI < 30 kg/m2. We reviewed the clinical data of 140 patients with T1DM and 524 clinically diagnosed with T2DM. On the basis of these criteria, we found aHNF1Amutation in 1 out of 2 individuals with a diagnosis of T1DM and 1 out of 11 selected individuals with a diagnosis of T2DM. We believe that the simplicity of the proposed criteria might prove useful in clinical practice, as an alternative to more time-consuming classical diagnostic techniques.

scholarly journals Precision Diabetes Is Slowly Becoming a Reality

2019 ◽  
Vol 28 (1) ◽  
pp. 1-9 ◽  
Author(s):  
Viswanathan Mohan ◽  
Venkatesan Radha
Keyword(s):  
Personalised Medicine ◽  
Neonatal Diabetes ◽  
Control Of Diabetes ◽  
Monogenic Forms Of Diabetes ◽  
Gene Defects ◽  
Clinical Tools ◽  
Near Future

The concept of precision medicine is becoming increasingly popular. The use of big data, genomics and other “omics” like metabolomics, proteomics and transcriptomics could make the dream of personalised medicine become a reality in the near future. As far as polygenic forms of diabetes like type 2 and type 1 diabetes are concerned, interesting leads are emerging, but precision diabetes is still in its infancy. However, with regard to monogenic forms of diabetes like maturity-onset diabetes of the young and neonatal diabetes mellitus, rapid strides have been made and precision diabetes has already become part of the clinical tools used at advanced diabetes centres. In patients with some monogenic form of diabetes, if the appropriate gene defects are identified, insulin injections can be stopped and be replaced by oral sulphonylurea drugs. In the coming years, rapid advances can be expected in the field of precision diabetes, thereby making the control of diabetes more effective and hopefully leading to prevention of its complications and improvement of the quality of life of people afflicted with diabetes.

scholarly journals Maturity Onset Diabetes of the Young due to Glucokinase, HNF1-A, HNF1-B, and HNF4-A Mutations in a Cohort of Turkish Children Diagnosed as Type 1 Diabetes Mellitus

2018 ◽  
Vol 90 (4) ◽  
pp. 257-265 ◽  
Author(s):  
Elif Ozsu ◽  
Filiz Mine Cizmecioglu ◽  
Gul Yesiltepe Mutlu ◽  
Aysegul Bute Yuksel ◽  
Mursel Calıskan ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Rare Condition ◽  
High Sensitivity ◽  
Genetic Mutation ◽  
Nuclear Factor ◽  
Maturity Onset Diabetes ◽  
Hepatocyte Nuclear Factor ◽  
Turkish Children ◽  
Onset Diabetes

Background/Aims: Maturity onset diabetes of the young (MODY) is a rare condition often misdiagnosed as type 1 diabetes (T1D). The purposes of this study were: to identify any patients followed in a large Turkish cohort as T1D, with an atypical natural history, who may in fact have MODY, and to define the criteria which would indicate patients with likely MODY as early as possible after presentation to allow prompt genetic testing. Methods: Urinary C-peptide/creatinine ratio (UCPCR) was studied in 152 patients having a diagnosis of T1D for at least 3 years. Those with a UCPCR ≥0.2 nmol/mmol were selected for genetic analysis of the Glucokinase (GCK), Hepatocyte nuclear factor 1a (HNF1A), Hepatocyte nuclear factor 4a (HNF4A), and Hepatocyte nuclear factor 1b (HNF1B) genes. This UCPCR cut-off was used because of the reported high sensitivity and specificity. Cases were also evaluated using a MODY probability calculator. Results: Twenty-three patients from 152 participants (15.1%) had a UCPCR indicating persistent insulin reserve. The mean age ± SD of the patients was 13.6 ± 3.6 years (range 8.30–21.6). Of these 23, two (8.7%) were found to have a mutation, one with HNF4A and one with HNF1B mutation. No mutations were detected in the GCK or HNF1A genes. Conclusion: In Turkish children with a diagnosis of T1D but who have persistent insulin reserve 3 years after diagnosis, up to 9% may have a genetic mutation indicating a diagnosis of MODY.

Maturity-Onset Diabetes of the Young (MODY): Genetic Causes, Clinical Characteristics, Considerations for Testing, and Treatment Options

Endocrines ◽  
2021 ◽  
Vol 2 (4) ◽  
pp. 485-501
Author(s):  
Zoltan Antal
Keyword(s):  
Clinical Presentation ◽  
Clinical Symptoms ◽  
Treatment Options ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes ◽  
Inappropriate Treatment ◽  
Monogenic Forms Of Diabetes ◽  
Initial Description

Maturity Onset Diabetes of the Young (MODY) encompasses a group of rare monogenic forms of diabetes distinct in etiology and clinical presentation from the more common forms of Type 1 (autoimmune) and Type 2 diabetes. Since its initial description as a clinical entity nearly 50 years ago, the underlying genetic basis for the various forms of MODY has been increasingly better elucidated. Clinically, the diagnosis may be made in childhood or young adulthood and can present as overt hyperglycemia requiring insulin therapy or as a subtle form of slowly progressive glucose impairment. Due to the heterogeneity of clinical symptoms, patients with MODY may be misdiagnosed as possessing another form of diabetes, resulting in potentially inappropriate treatment and delays in screening of affected family members and associated comorbidities. In this review, we highlight the various known genetic mutations associated with MODY, clinical presentation, indications for testing, and the treatment options available.

Diabetes in pregnancy

2020 ◽  
pp. 2627-2637
Author(s):  
Bryony Jones ◽  
Anne Dornhorst
Keyword(s):  
Gestational Diabetes ◽  
Post Partum ◽  
Insulin Dose ◽  
Tolerance Test ◽  
Oral Glucose ◽  
Oral Glucose Tolerance ◽  
Diabetes In Pregnancy ◽  
In Pregnancy

Diabetes in pregnancy is predominantly either pre-existing type 1 or type 2 diabetes mellitus, or gestational diabetes, the latter defined as diabetes or glucose intolerance first diagnosed during the pregnancy. Gestational diabetes usually arises in the late second trimester and is common, affecting from 2–6% to 15–20% of pregnant women depending on diagnostic criteria and country of origin. Gestational diabetes is most commonly diagnosed on the basis of an oral glucose tolerance test performed at 24–28 weeks’ gestation by a plasma glucose at 0 minutes of more than 5.1 (or >5.6, depending on the authority) mmol/L, or at 120 minutes of more than 8.5 (or >7.8) mmol/L. The effect of pregnancy on maternal glycaemic control ceases very quickly post-partum, hence women with pre-existing diabetes taking insulin should immediately revert to their pre-pregnancy regimen after birth, but with a lower insulin dose.

scholarly journals Prediabetes Is Associated withHNF-4αP2 Promoter Polymorphism rs1884613: A Case-Control Study in Han Chinese Population and an Updated Meta-Analysis

2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
Changyi Wang ◽  
Sihan Chen ◽  
Tao Zhang ◽  
Zhongwei Chen ◽  
Shengyuan Liu ◽  
...  
Keyword(s):  
Chinese Population ◽  
Case Control Study ◽  
Meta Analysis ◽  
Promoter Polymorphism ◽  
Case Control ◽  
Nuclear Factor ◽  
Hepatocyte Nuclear Factor ◽  
P2 Promoter ◽  
Control Study

Background. Controversy remains for the association between hepatocyte nuclear factor4α(HNF-4α) P2 promoter polymorphism rs1884613 and type 2 diabetes (T2D). There was no association test of this polymorphism with prediabetes and T2D in the Chinese population. Moreover, an updated meta-analysis in various ethnic groups is needed to establish the contribution of rs1884613 to T2D risk.Methods. Using the Sequenom MassARRAY platform approach, we genotyped rs1884613 ofHNF-4αin the P2 promoter region among 490 T2D patients, 471 individuals with prediabetes, and 575 healthy controls. All the individuals were recruited from 16 community health service centers in Nanshan district in Shenzhen province. Using STATA 11.0 software, meta-analysis was performed to summarize the overall contribution of rs1884613 to T2D risk.Results. Polymorphism rs1884613 was associated with genetic susceptibility to prediabetes in the whole samples (OR = 1.40, 95% CI = 1.16–1.68,P=0.0001) and the female subgrouped samples (OR = 1.48, 95% CI = 1.14–1.92,P=0.003) after adjusting for age and body mass index (BMI). In contrast, there was no association of rs1884613 with T2D in the whole samples and male in our case-control study and meta-analysis.Conclusions. Our results suggest that rs1884613 contributes to susceptibility to prediabetes, whereas this polymorphism may not play an important role in the development of T2D.

Neonatal Diabetes – From Gene Discovery yo Clinical Practice Changes

2013 ◽  
Vol 20 (3) ◽  
pp. 343-352
Author(s):  
Cristian Guja ◽  
Loreta Guja ◽  
Constantin Ionescu-Tîrgovişte
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Single Gene ◽  
Neonatal Diabetes ◽  
Monogenic Diabetes ◽  
Special Focus ◽  
Sulphonylurea Treatment ◽  
The Common

Abstract Diabetes mellitus is one of the most common chronic diseases but also one of the most heterogeneous. Apart the common phenotypes of type 1 and type 2 diabetes, around 1-2% of all cases arise from a single gene mutation and are known as monogenic diabetes. Diabetes diagnosed within the first 6 months of life is known as neonatal diabetes and has been extensively studied during the last two decades. Unraveling the genetic cause and molecular mechanism of this rare diabetes phenotype led to a dramatic change in the treatment of these children who often can be switched from insulin to sulphonylurea treatment. The aim of this paper is to review the known genetic causes of neonatal diabetes and to highlight the most recent aspects of the disease caused by mutations in the KATP and insulin genes, with a special focus on the individualized treatment of these cases

scholarly journals Variants in the hepatocyte nuclear factor-1alpha and -4alpha genes in Finnish and Chinese subjects with late-onset type 2 diabetes

Diabetes Care ◽  
2000 ◽  
Vol 23 (10) ◽  
pp. 1533-1538 ◽  
Author(s):  
J. Rissanen ◽  
H. Wang ◽  
R. Miettinen ◽  
P. Karkkainen ◽  
P. Kekalainen ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Late Onset ◽  
Nuclear Factor ◽  
Hepatocyte Nuclear Factor ◽  
Onset Type ◽  
Chinese Subjects
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