scholarly journals Maturity-Onset Diabetes of Young Type 5: Diabetes with Extrapancreatic Features

2021 ◽  
Vol 2021 ◽  
pp. 1-3
Author(s):  
Adnan Haider ◽  
Oksana Symczyk ◽  
Ayesha Hassan ◽  
Muhammad Atif Khan ◽  
Inderpreet Madahar ◽  
...  
Keyword(s):  
Family History ◽  
Tolerance Test ◽  
Diabetes Patient ◽  
Oral Glucose ◽  
Maturity Onset Diabetes ◽  
Family History Of Diabetes ◽  
Onset Diabetes ◽  
The Family ◽  
History Of ◽  
Renal Abnormalities

Objective. This case involves a new-onset diabetes patient diagnosed during pregnancy with the congenital dysplastic right kidney. Case Report. Clinical presentation, biochemical features, imaging in a patient with diabetes diagnosed during pregnancy, and congenital dysplastic right kidney. Discussion. We present a case of a 22-year-old female with the congenital dysplastic right kidney diagnosed with gestational diabetes mellitus after failing a 1-hour oral glucose tolerance test, requiring insulin during pregnancy. Because of the family history of diabetes and morphologic renal abnormalities at young ages on the maternal side of the family, our patient was evaluated for maturity-onset diabetes of adult and was found to have HNF-1β mutation. Conclusion. This case highlights the importance of considering the diagnosis of maturity-onset diabetes of young and particularly MODY-5 in individuals with extrapancreatic features. MODY-5 should also be considered in a patient undergoing renal transplant at young ages with a family history of morphologic renal abnormalities.

scholarly journals Incidence of diabetes mellitus and associated risk factors in the adult population of the Basque country, Spain

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Inés Urrutia ◽  
◽  
Alicia Martín-Nieto ◽  
Rosa Martínez ◽  
J Oriol Casanovas-Marsal ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Risk Factors ◽  
Family History ◽  
Basque Country ◽  
Adult Population ◽  
Tolerance Test ◽  
Oral Glucose ◽  
Family History Of Diabetes ◽  
History Of ◽  
Incident Cases

AbstractThe aim of this study was to estimate the incidence of diabetes mellitus in the Basque Country and the risk factors involved in the disease by reassessing an adult population after 7 years of follow-up. In the previous prevalence study, 847 people older than 18 years were randomly selected from all over the Basque Country and were invited to answer a medical questionnaire, followed by a physical examination and an oral glucose tolerance test. In the reassessment, the same variables were collected and the resulting cohort comprised 517 individuals of whom 43 had diabetes at baseline. The cumulative incidence of diabetes was 4.64% in 7 years and the raw incidence rate was 6.56 cases/1000 person-years (95%CI: 4.11–9.93). Among the incident cases, 59% were undiagnosed. The most strongly associated markers by univariate analyses were age > 60 years, dyslipidaemia, prediabetes and insulin resistance. We also found association with hypertension, obesity, family history of diabetes and low education level. Multivariate analysis adjusted for age and sex showed that a set of risk factors assessed together (dyslipidaemia, waist-to-hip-ratio and family history of diabetes) had great predictive value (AUC-ROC = 0.899, 95%CI: 0.846–0.953, p = 0.942), which suggests the need for early intervention before the onset of prediabetes.

Maturity onset diabetes of the young (MODY) in Chinese children: genes and clinical phenotypes

2019 ◽  
Vol 32 (7) ◽  
pp. 759-765 ◽  
Author(s):  
Zhu Ming-Qiang ◽  
Dai Yang-Li ◽  
Huang Ke ◽  
Wu Wei ◽  
Fu Jun-Fen ◽  
...  
Keyword(s):  
Mutational Analysis ◽  
Disease Diagnosis ◽  
Tolerance Test ◽  
Chinese Children ◽  
Chinese Patients ◽  
Molecular Characteristics ◽  
Oral Glucose ◽  
Maturity Onset Diabetes ◽  
Family History Of Diabetes ◽  
Onset Diabetes

Abstract Background To investigate the clinical and molecular characteristics of Chinese children with maturity onset diabetes of the young (MODY). Methods A total of 42 Chinese patients suspected MODY referred to our unit from 2014 to 2018 were enrolled. Mutational analysis of monogenic diabetes mellitus genes was performed by next-generation sequencing and confirmed by Sanger sequencing. Results There were 28 males (66.7%) and 14 females (33.3%) with a mean age of 9.49 ± 3.46 years (range, 1.4–15.3 years) and a mean birth weight of 3.38 ± 0.49 kg (range, 2.55–4.90 kg). Among these patients, 15 patients had polyuria, polydipsia or weight loss. Two patients (4.8%) were obese and six (14.3%) were overweight. Moreover, 13 patients (30.9%) had a family history of diabetes. Thirty variants were identified in 28 patients. Twenty-six variants in 25 patients were pathogenic or likely pathogenic genes (59.5%, 25/42), including 15 patients (60.0%, 15/25) with GCK mutation, four (16.0%, 4/25) with PAX4 mutation, three (12.0%, 3/25) with HNF4A mutation, one (4.0%, 1/25) with INS mutation, one (4.0%, 1/25) with NEUROD1 mutation and one (4.0%, 1/25) with HNF1A mutation. Nine mutations (36.0%, 9/25) were novel. There was no difference between mutation-suspected patients and MODY-confirmed patients except for a 2-h glucose increment in an oral glucose tolerance test (OGTT), while the GCK-MODY had lower glycated hemoglobin (HbA1c) and a significantly smaller 2-h glucose increment in an OGTT compared with transcription factor MODYs. The GCK-MODY was identified by incidental hyperglycemia without glycosuria. GCK-MODY without drug management and hepatocyte nuclear factor-1 alpha (HNF4A) or HNF1A-MODY with sulfonylurea therapy obtained good glucose controlling. Conclusions Mutation of the GCK gene is the most common in MODY patients in China followed by PAX4. The screening criteria can improve the cost-effectiveness of disease diagnosis and treatment. A precise molecular diagnosis would lead to optimal treatment of the patients.

scholarly journals New Onset Diabetes after Transplant – Risk Factors, Clinical Profile and Outcome

2018 ◽  
Vol 2 (1) ◽  
pp. 35-40
Author(s):  
Sakthirajan R ◽  
Dhanapriya J ◽  
Dineshkumar T ◽  
Balasubramaniyan T ◽  
Gopalakrishnan N ◽  
...  
Keyword(s):  
Risk Factors ◽  
Insulin Resistance ◽  
Family History ◽  
Fasting Blood Glucose ◽  
Hcv Infection ◽  
Clinical Profile ◽  
Family History Of Diabetes ◽  
Onset Diabetes ◽  
History Of ◽  
New Onset

Background: New onset diabetes after transplant (NODAT) remains one among the significant threats to both renal allograft and patient survival. The aim of this study was to analyse the clinical profile and risk factors for NODAT.Methods: This prospective observational study involved patients who underwent renal transplantation in our centre between 2010 and 2015.Results: During the mean follow up period of 18 ± 6 months, incidence of NODAT was 26.6% and the cumulativeincidence was highest in the first year after transplant. Recipient age, pre transplant impaired fasting glucose, Hepatitis C virus (HCV) infection, family history of diabetes, tacrolimus, post transplant hypertriglyceridemia and metabolic syndrome were found to be statistically significant risk factors for NODAT. In Cox multivariate regression analysis, age and family history of diabetes were found to be independent risk factors for NODAT. Fasting C-peptide level underlines insulin resistance as predominant mechanism for NODAT in two third of patients. There were higher incidence of urinary tract infection in the NODAT patients. NODAT was found to be an independent risk factor for fungal infection and 10 year cardiovascular risk in the renal recipients. There was no significant impact of NODAT on short term graft and patient survival.Conclusion: Age, pre-transplant fasting blood glucose, family history of diabetes, HCV infection and tacrolimus were found to be the important risk factors, with insulin resistance as the predominant mechanism for NODAT.

scholarly journals The prevalence of insulin resistance in patients with β -thalassemia major at Cipto Mangunkusumo Hospital

2016 ◽  
Vol 43 (4) ◽  
pp. 117
Author(s):  
Caroline Mulawi ◽  
Bambang Tridjaja ◽  
Maria Abdulsalam ◽  
Zakiudin Munasir
Keyword(s):  
Diabetes Mellitus ◽  
Insulin Resistance ◽  
Family History ◽  
Glucose Metabolism ◽  
Thalassemia Major ◽  
Oral Glucose ◽  
Model Assessment ◽  
Cross Sectional ◽  
Family History Of Diabetes ◽  
History Of

Background Diabetes mellitus is a common complication in pa-tients with thalassemia major. Iron overload plays an important roleby damaging the pancreatic β-cell and the liver cell, with the con-sequences of insulin deficiency and insulin resistance. Family his-tory of diabetes mellitus is one of the critical factors for the devel-opment of glucose metabolism derangement. However, the patho-genesis of glucose metabolism derangement remains unclear.Objective To evaluate the prevalence of impaired glucose toler-ance, diabetes mellitus, and insulin resistance in patients with β-thalassemia major treated in the Thalassemia Outpatient Clinic,Department of Child Health, Cipto Mangunkusumo Hospital,Jakarta.Methods This was a descriptive cross sectional study conductedin May 2002. Forty-eight subjects aged 10 to 18 years, grouped bytotal volume of transfusions and family history of diabetes mellitus,underwent an oral glucose tolerance test (OGTT), serum transfer-rin saturation, and insulin level examinations. Insulin resistancewas calculated from fasting plasma glucose and insulin concen-trations using the homeostasis model assessment (HOMA).Results One of 48 patients (2%) had impaired glucose toleranceat the age of 17 years. Diabetes mellitus occurred in three of 48patients (6%) at the age of 15.5 years in one patient and 18 yearsin two patients. Family history of diabetes mellitus was found in 2patients with diabetes mellitus and in the only one with impairedglucose tolerance. Insulin resistance was not detected in this study.Conclusion The prevalence of glucose metabolism derangementin patients with thalassemia major was low. No insulin resistancewas found in this study

scholarly journals Prevalence and cause of gestational diabetes mellitus in a tertiary care center in Kolar district: a population based study

2019 ◽  
Vol 8 (7) ◽  
pp. 2709
Author(s):  
Poojita Tummala ◽  
Munikrishna M. ◽  
Kiranmayee P.
Keyword(s):  
Diabetes Mellitus ◽  
Family History ◽  
Gestational Diabetes ◽  
Gestational Diabetes Mellitus ◽  
Pregnant Women ◽  
Tertiary Care ◽  
Oral Glucose ◽  
Care Hospital ◽  
Family History Of Diabetes ◽  
History Of

Background: Gestational diabetes mellitus (GDM) is carbohydrate intolerance at the onset of pregnancy which induces pathological short term or long term outcomes for both mother and baby. The aim of the present study was to know the prevalence of GDM in pregnant women who were attending the antenatal care (ANC) center at a tertiary care hospital in Kolar, Karnataka, India.Methods: This prospective study was conducted in Department of Obstetrics and Gynecology, Sri Devaraj Urs Medical College, a constituent of Sri Devaraj Urs Academy of Higher Education and Research, Kolar, Karnataka, India. The duration of the study was two months. In this study, 108 pregnant women above 24 weeks of gestation were screened for GDM by oral glucose tolerance test. Fasting 2 milli liter blood was collected and were given 75 grams of glucose in 200 milli liters of water and asked to drink within 5 minutes. Again 2 milli liters venous blood was collected after 1 hour and 2 hours from all participants. Plasma sample was used for the estimation of glucose by glucose oxidase and peroxidase (GOD-POD) method.Results: Out of 108, 12 women (11.1%) were diagnosed with GDM. The prevalence rate was higher in the age group of 26-30 years (41.6%).  Among 12 diabetic women, five (47.2%) exercised regularly and seven (58.3%) did not doing exercise. Out of 12 GDM subjects, eight of them had family history of diabetes in first degree relatives; among which one was hypertensive and five were suffering from thyroid problems.Conclusions: In the present study, the prevalence of GDM was found to be 11.1%. Prevalence of GDM might be influenced by increasing age, pre pregnancy weight, family history of diabetes, past history of pregnancy complications, status of literacy and exercise.

Genetic and clinical characterisation of maturity-onset diabetes of the young in Spanish families

2000 ◽  
pp. 380-386 ◽  
Author(s):  
A Costa ◽  
M Bescos ◽  
G Velho ◽  
J Chevre ◽  
J Vidal ◽  
...  
Keyword(s):  
Insulin Secretion ◽  
Insulin Sensitivity ◽  
Tolerance Test ◽  
Oral Glucose ◽  
Sequencing Analysis ◽  
Model Assessment ◽  
Maturity Onset Diabetes ◽  
Phenotypic Differences ◽  
Glucose Levels ◽  
Onset Diabetes

OBJECTIVE: To investigate the frequencies of the major maturity-onset diabetes of the young (MODY) subtypes in a panel of Spanish families and to assess phenotypic differences in patients with the different subtypes of MODY. METHODS: Forty-eight subjects from twenty families with clinical diagnosis of MODY were studied. They underwent a standardised clinical examination and a 75-g oral glucose tolerance test (OGTT) was performed. Estimations of insulin sensitivity (%S) and insulin secretion capacity (%B) were calculated by the computer-solved homeostasis model assessment (HOMA). Mutations in the coding regions of hepatocyte nuclear factor (HNF)-4alpha/MODY1, glucokinase (GCK/MODY2) and HNF-1alpha/MODY3 genes were investigated by single strand comformation polymorphism and sequencing analysis. RESULTS: Mutations in the GCK and HNF-1alpha genes were observed in 5 (25%) and 7 (35%) families respectively. Novel mutations included R385X, M238fsdelT, V226fsdelTinsAA and S418-7del11 in the GCK gene, and S121fsdelC, V133M, R159Q and V259D in the HNF-1alpha gene. No MODY1 families were found. Subjects which were neither MODY2 nor MODY3 (MODY-X) had a higher fasting glucose than subjects in the other groups. Insulin secretion capacity was similar in the three groups and the insulin sensitivity was decreased in MODY-X subjects. Glucose levels were significantly higher and insulin levels significantly lower, throughout the OGTT, in MODY3 compared with MODY2 subjects. CONCLUSIONS: Mutations in the GCK/MODY2 and HNF-1alpha/MODY3 genes account for the majority of cases in a panel of Spanish MODY families, with MODY3 being the most frequent subtype. The relative frequencies and the clinical characteristics of these MODY subtypes are in agreement with data previously reported in other European populations. MODY-X patients seem to present a heterogeneous clinical profile.

scholarly journals MODY2 in Asia: analysis of GCK mutations and clinical characteristics

2020 ◽  
Vol 9 (5) ◽  
pp. 471-478
Author(s):  
Yuan Zhou ◽  
ShengNan Wang ◽  
Jing Wu ◽  
JianJun Dong ◽  
Lin Liao
Keyword(s):  
Family History ◽  
Clinical Characteristics ◽  
Correct Diagnosis ◽  
Molecular Genetic ◽  
Maturity Onset Diabetes ◽  
Coding Regions ◽  
Asian Patients ◽  
Onset Diabetes ◽  
Common Location ◽  
History Of

Aims Heterozygous inactivating mutations in the GCK gene cause the familial, mild fasting hyperglycaemia named MODY2. Many patients with MODY2 in Asia have delayed timely treatment because they did not receive the correct diagnosis. This study aims to analyze the clinical characteristics and GCK mutations in Asian MODY2. Methods We have collected 110 Asian patients with MODY2 from the PubMed, Embase, Medline, Web of Science, CNKI, and Wanfang with the following search terms: ‘maturity-onset diabetes of the young’ OR ‘MODY’ OR ‘maturity-onset diabetes of the young type 2’ OR ‘MODY2’ OR ‘GCK-DM’ OR ‘GCK-MODY’. Both mutations of GCK and clinical characteristics of MODY2 were analyzed. Results There were 96 different mutations that occurred in coding regions and non-coding regions. Exon 5 and 7 were the most common location in coding regions and missense was the primary mutation type. The proportion of probands younger than 25 was 81.8%, and 81.4% of the probands had family history of hyperglycaemia. Ninety percent and 93% of Asian MODY2 probands exhibited mild elevation in FPG (5.4–8.3 mmol/L) and HbA1c (5.6–7.6%), respectively. Conclusions In most Asian patients, MODY2 occurred due to GCK mutation in coding regions, and exon 5 and 7 were the most common locations. FPG, HbA1c, and familial diabetes were important reference indicators for diagnosing MODY2. Altogether, the study indicates that for the young onset of diabetes with mild elevated blood glucose and HbA1c and family history of hyperglycaemia, molecular genetic testing is suggested in order to differentiate MODY2 from other types of diabetes earlier.

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