Abstract:
BACKGROUND:Dominant inactivating mutations in HNF1A and HNF4A have been described to cause hyperinsulinism (HI) before evolving to diabetes. However, information available in the literature regarding the clinical phenotype is limited. OBJECTIVE:To report the prevalence of HNF1A and HNF4A mutations in a large cohort of children with HI, and to describe their genotypes and phenotypes. DESIGN:Retrospective descriptive study. METHODS:Medical records were reviewed to extract clinical information. Mutation analysis was carried out for 8 genes associated with HI (ABCC8, KCNJ11, GLUD1, GCK, HADH, HNF4A, HNF1A, and UCP2). RESULTS:HNF1A and HNF4A mutations were identified in 5.9% (12 out of 204; HNF1A = 7, HNF4A = 5) of diazoxide-responsive HI probands. The clinical phenotypes were extremely variable. Two children showed evidence of ketone production during hypoglycemia, a biochemical profile atypical for hyperinsulinism. At the time of analysis, diazoxide was discontinued in 5 children at a median age of 6.8 years. None had developed diabetes mellitus at a median age of 7.0 years. CONCLUSIONS:Given the heterogeneous clinical phenotypes of HNF1A- and HNF4A-HI, all children with transient, diazoxide-responsive HI without clear history of perinatal stress, should be screened for HNF1A and HNF4A mutations as it predicts the clinical course and affects the subsequent management plan.
journal_name
Pediatr Diabetesjournal_title
Pediatric diabetesauthors
Tung JY,Boodhansingh K,Stanley CA,De León DDdoi
10.1111/pedi.12655subject
Has Abstractpub_date
2018-08-01 00:00:00pages
910-916issue
5eissn
1399-543Xissn
1399-5448journal_volume
19pub_type
杂志文章abstract:BACKGROUND:Autoantibodies (A) against Neuropeptide Y (NPY), was reported in 9% newly diagnosed type 1 diabetes (T1D) patients. A single nucleotide polymorphism (SNP) at rs16139 (T1128C) within the NPY-gene identified an amino acid substitution from leucine (L) to proline (P) (L7P) associated with both glucose tolerance...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12222
更新日期:2015-12-01 00:00:00
abstract:INTRODUCTION:Trials in adults have demonstrated that interventions targeting lifestyle are effective in preventing or delaying type 2 diabetes (T2D). To address this need in youth, we developed ENCOURAGE Healthy Families (ENCOURAGE), based on the US Diabetes Prevention Program (DPP). STUDY DESIGN:Here, we present resu...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12692
更新日期:2018-05-20 00:00:00
abstract::This study aimed to analyse the impact of the disease and treatment on health-related quality of life (HRQOL) in intensively treated young patients with diabetes. Our main hypothesis was that metabolic control, gender, age and socio-economic status predict HRQOL. All children and adolescents (n = 400, 191 girls) and p...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/j.1399-5448.2008.00496.x
更新日期:2009-09-01 00:00:00
abstract:OBJECTIVE:To investigate the relationship between triglyceride to high-density lipoprotein cholesterol (TG/HDL-C) ratio and carotid intima-medial thickness (CIMT) in Chinese youth and adolescents with newly diagnosed type 2 diabetes mellitus (T2DM). METHODS:Ninety-eight subjects aged 10-24 yr with newly-diagnosed T2DM...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12250
更新日期:2016-03-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:There are substantial controversies about the clinical utility of adolescent metabolic syndrome (MetS). The current study examined the stability of adolescent MetS by assessing the agreement and discriminative abilities of four different definitions of adolescent MetS and the adult MetS definit...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12349
更新日期:2017-02-01 00:00:00
abstract:OBJECTIVE:To assess the experiences of participants and parents of children in the oral insulin study of the Diabetes Prevention Trial - Type 1. METHOD:Before trial results were publicized, surveys were completed by 124 participants and 219 parents of children in the oral trial. RESULTS:Although most of those surveye...
journal_title:Pediatric diabetes
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1399-5448.2008.00463.x
更新日期:2009-05-01 00:00:00
abstract:PURPOSE:To examine risk factors for re-hospitalization after diagnosis of diabetes mellitus amongst urban minority children. METHODS:Families of insulin-treated African-American and Latino patients aged < 18 yr at diagnosis (n = 216) were interviewed about sociodemographics and other characteristics, on average 5.9 yr...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1034/j.1399-5448.2002.30104.x
更新日期:2002-03-01 00:00:00
abstract:OBJECTIVES:We assessed pubertal development, height, weight, and waist-to-hip ratio (WHR), an index of central adiposity during puberty, in girls with type-1 diabetes mellitus (T1DM), compared to a contemporary control group. METHODS:Pubertal development, weight, height and WHR were studied in 100 pubertal girls with ...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/j.1399-543X.2004.00059.x
更新日期:2004-12-01 00:00:00
abstract::We report an interesting and unique case of an overweight adolescent with a novel mutation of the maturity-onset diabetes of the young (MODY)3 gene [hepatocyte nuclear factor-1 alpha (HNF-1alpha)] and positive islet cell autoantibodies. The patient is a 17-yr-old Caucasian female, who was diagnosed with type 2 diabete...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/j.1399-5448.2007.00335.x
更新日期:2008-04-01 00:00:00
abstract::In children with type 1 diabetes (T1DM), altered adaptive responses to exercise (secretion of growth factors, inflammatory cytokines, and glucoregulatory mediators) may have potential implications in growth and development, early onset of disease complications, and incidence of hypoglycemia. We therefore measured a br...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/j.1399-543X.2006.00140.x
更新日期:2006-02-01 00:00:00
abstract:BACKGROUND:Diabetes ketoacidosis (DKA) is a common presentation and complication of type 1 diabetes (T1D). While intravenous insulin is typically used to treat acute metabolic abnormalities, the transition from intravenous to subcutaneous treatment can present a challenge. We hypothesize that co-administration of glarg...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12462
更新日期:2017-12-01 00:00:00
abstract:OBJECTIVE:Type 1 diabetes (T1D) develops in distinct stages, before and after disease onset. Whether the natural course translates into different immunologic patterns is still uncertain. This study aimed at identifying peripheral immune patterns at key time-points, in T1D children undergoing remission phase. METHODS:C...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12671
更新日期:2018-08-01 00:00:00
abstract:BACKGROUND:Type 1 diabetes (T1D) mellitus and obesity are recognized risk factors for cardiovascular disease (CVD). A common mechanism underlying an increased risk for endothelial dysfunction in these two metabolic diseases is oxidative stress. OBJECTIVE:To evaluate and compare the oxidant/antioxidant defense systems ...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/j.1399-5448.2009.00565.x
更新日期:2010-06-01 00:00:00
abstract::Type 1 diabetes mellitus (T1DM) is the archetypal example of a T cell-mediated autoimmune disease characterized by selective destruction of pancreatic β cells. The pathogenic equation for T1DM presents a complex interrelation of genetic and environmental factors, most of which have yet to be identified. On the basis o...
journal_title:Pediatric diabetes
pub_type: 杂志文章,评审
doi:10.1111/pedi.12299
更新日期:2015-11-01 00:00:00
abstract:OBJECTIVE:Bilirubin is a potent antioxidant, and serum total bilirubin (STB) concentrations correlate negatively with cardiovascular risk. In adult diabetic patients and in healthy adults, a negative correlation between STB and glycated hemoglobin (HbA1c) has been reported. We investigated whether there is such an asso...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12102
更新日期:2014-08-01 00:00:00
abstract:BACKGROUND:Faster-acting insulin aspart (faster aspart) is insulin aspart (IAsp) in a new formulation with additional excipients (L-arginine and niacinamide). In adults, faster aspart provides faster onset and greater early exposure and action vs IAsp. AIM:This randomized, double-blind, 2-period crossover trial invest...
journal_title:Pediatric diabetes
pub_type: 杂志文章,随机对照试验
doi:10.1111/pedi.12506
更新日期:2017-12-01 00:00:00
abstract:AIM:The aim of this study was to compare genetic (HLA-DQ) and immune markers in a large population of type 1 diabetic (T1D) children and adolescents residing in the same environment, but of different ethnic origin: European Caucasians (EC), Moghrabin Caucasians (MC), Black Africans (BA) and of Mixed Origin (MO). METHO...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12293
更新日期:2016-08-01 00:00:00
abstract:AIMS/HYPOTHESIS:Adolescents with type 1 diabetes (T1D) often have a less atherogenic-appearing fasting lipid profile than controls, despite increased rates of cardiovascular disease (CVD) as adults. We previously reported an atherogenic lipoprotein subfraction cholesterol distribution associated with insulin resistance...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12277
更新日期:2016-06-01 00:00:00
abstract:OBJECTIVE:To describe insulin pump use by youth since introduction of universal funding in Ontario, Canada and to explore the relationship between pump use and pediatric diabetes center characteristics and the relationship between discontinuation and center and patient characteristics. RESEARCH DESIGN AND METHODS:Obse...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12353
更新日期:2017-02-01 00:00:00
abstract:BACKGROUND:Previous studies have reported that handgrip strength, a measure of muscular fitness, is associated with insulin resistance in children and adolescents, with conflicting results. Further, no studies have examined the association between handgrip strength with 2-hour glucose levels. OBJECTIVE:We tested the a...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12596
更新日期:2018-05-01 00:00:00
abstract:BACKGROUND:There is marked variation in diabetes outcomes for children and adolescents across the UK. We used modelling techniques to examine the independent contributions of deprivation, ethnicity, insulin pump use, and health service use on HbA1c trajectories across adolescence. METHODS:Prospective data from a large...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12407
更新日期:2017-08-01 00:00:00
abstract:OBJECTIVE:Type 2 diabetes mellitus (T2DM) is increasingly common among children and adolescents. However, achievement of good metabolic control has been difficult in this population. The aim of this study was to survey pediatric endocrine and diabetes specialists regarding the issues they consider to be barriers to suc...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1034/j.1399-5448.2003.00027.x
更新日期:2003-03-01 00:00:00
abstract:OBJECTIVE:The objective of this study was to investigate the importance of trust in researchers and other reasons that participating parents, former participants, and non-participants had for participating, or not participating, in a longitudinal cohort study on prediction and development of diabetes in children. STUD...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/j.1399-5448.2008.00498.x
更新日期:2009-09-01 00:00:00
abstract::The association of type 1 diabetes mellitus (T1DM) and acute chorea is rare. We report an 8-yr-old boy with T1DM who developed acute hemichorea-hemiballism of the right arm in whom magnetic resonance imaging (MRI) of the brain revealed hyperintense signal in putamen and considerable atrophy and focal area of gliosis i...
journal_title:Pediatric diabetes
pub_type: 杂志文章,评审
doi:10.1111/j.1399-5448.2012.00856.x
更新日期:2012-09-01 00:00:00
abstract:BACKGROUND:Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) is one of the rare H syndrome diseases mainly characterized by hyperpigmentation, hypertrichosis, sensorineural hearing loss, cardiac complications, developmental delay, and diabetes mellitus (DM). Mutations in the coding...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12839
更新日期:2019-06-01 00:00:00
abstract:OBJECTIVE:Proinsulin is a marker of beta-cell distress and dysfunction in type 2 diabetes and transplanted islets. Proinsulin levels are elevated in patients newly diagnosed with type 1 diabetes. Our aim was to assess the relationship between proinsulin, insulin dose-adjusted haemoglobin A1c (IDAA1C), glucagon-like pep...
journal_title:Pediatric diabetes
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1399-5448.2011.00812.x
更新日期:2012-02-01 00:00:00
abstract:BACKGROUND/OBJECTIVE:Restrictive eligibility criteria have hampered enrollment into trials for new drugs for youth with type 2 diabetes (T2D). We utilized Pediatric Diabetes Consortium (PDC) T2D Registry enrollment data to estimate the percentage of patients who would be excluded from current T2D trials based on out-of...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12763
更新日期:2018-12-01 00:00:00
abstract:BACKGROUND:Studies indicate high rates of treatment failure and early onset diabetes-related complications in youth-onset type 2 diabetes (T2D). We aim to describe the quality of care provided to children and youth with T2D. METHODS:This prospective cohort study used administrative datasets to describe individuals age...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12147
更新日期:2014-11-01 00:00:00
abstract:INTRODUCTION:The accuracy of blood pressure (BP) measurement is a prerequisite for the reliable diagnosis and management of hypertension. OBJECTIVES:This survey evaluated the use of office and out-of-office BP measurements and the antihypertensive pharmacological treatment in expert pediatric diabetes centers. METHOD...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.13114
更新日期:2020-12-01 00:00:00
abstract:OBJECTIVE:Mothers of youth with type 1 diabetes experience increased levels of stress and depression related to the burden of diabetes management, but the concept of diabetes distress, or distress linked specifically to diabetes and its management, has not been applied to mothers. The current study examined diabetes di...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12350
更新日期:2017-02-01 00:00:00