Abstract:
:Inactivating mutations in the pancreatic beta cell ATP-sensitive potassium (K(ATP) ) channel genes are identified by sequencing in approximately 80% of patients with diazoxide-unresponsive hyperinsulinaemic hypoglycaemia (HH). Genetic testing is clinically important as the mode of inheritance of a K(ATP) channel mutation(s) provides information on the histological subtype. For example in patients with a single paternally inherited mutation a focal lesion is possible and once confirmed, the patient can undergo a curative lesionectomy. By contrast, recessive inheritance indicates diffuse disease, which requires near-total pancreatectomy, if medical management is unsuccessful. We investigated ABCC8 and KCNJ11 gene dosage in 29 probands from a cohort of 125 with diazoxide-unresponsive HH where sequencing did not provide a genetic diagnosis. We identified heterozygous partial ABCC8 deletions in four probands. In two cases with focal pancreatic disease, a paternally inherited deletion was found. Two other probands with diffuse pancreatic disease were compound heterozygotes for a deletion and a recessively acting mutation that had been identified by sequencing. Family member studies confirmed compound heterozygosity for the deletion and the missense mutation in two affected siblings of one proband. Heterozygous deletions of the ABCC8 gene are a rare, but important cause of diazoxide-unresponsive HH. Dosage analysis should be undertaken in all patients when sequencing analysis does not confirm the genetic diagnosis as confirmation of the mode of inheritance can guide clinical management and will provide important information regarding recurrence risk.
journal_name
Pediatr Diabetesjournal_title
Pediatric diabetesauthors
Flanagan S,Damhuis A,Banerjee I,Rokicki D,Jefferies C,Kapoor R,Hussain K,Ellard Sdoi
10.1111/j.1399-5448.2011.00821.xsubject
Has Abstractpub_date
2012-05-01 00:00:00pages
285-9issue
3eissn
1399-543Xissn
1399-5448journal_volume
13pub_type
杂志文章abstract:BACKGROUND:The Practice Management Committee (PMC) of the Pediatric Endocrine Society (PES) conducted a survey of its membership in February/March, 2016 to assess the current state of pediatric diabetes care delivery across multiple practice types in the United States. METHODS:The PES distributed an anonymous electron...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12677
更新日期:2018-08-01 00:00:00
abstract:BACKGROUND:Hemoglobin A1c (HbA1c) levels have been shown to worsen in adolescence and be related to long-term diabetes complications. Although categories of diabetes control (e.g., ideal, satisfactory, and poor) are routinely used in clinical practice, research has not fully explored whether these categories meaningful...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/j.1399-5448.2010.00638.x
更新日期:2010-12-01 00:00:00
abstract:OBJECTIVE:The metabolic syndrome is associated with insulin resistance in adults. We defined pediatric metabolic syndrome using criteria analogous to Adult Treatment Panel III. The purpose of this study was to determine whether these criteria are reliable for insulin resistance in children. RESEARCH DESIGN AND METHODS...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/j.1399-5448.2007.00282.x
更新日期:2007-10-01 00:00:00
abstract:OBJECTIVE:The main objective of this work was to follow-up the development of diabetic neuropathy (DN) and its severity in patients with type 1 diabetes over 10 yr. Our intention was also to observe risk factor changes and verify which of them influence the development of neuropathy. The other objective was longitudina...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12382
更新日期:2016-12-01 00:00:00
abstract:OBJECTIVE:Mechanisms underlying the role of non-human leukocyte antigen (HLA) genetic risk variants in type 1 diabetes (T1D) are poorly understood. We aimed to test the association between methylation and non-HLA genetic risk. METHODS:We conducted a methylation quantitative trait loci (mQTL) analysis in a nested case-...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12995
更新日期:2020-06-01 00:00:00
abstract:BACKGROUND:Non-alcoholic fatty liver disease (NAFLD) is a comorbidity of childhood obesity. OBJECTIVE:We examined whole-body substrate metabolism and metabolic characteristics in obese adolescents with vs. without NAFLD. SUBJECTS:Twelve obese (BMI ≥ 95th percentile) adolescents with and without NAFLD [intrahepatic tr...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12141
更新日期:2015-05-01 00:00:00
abstract::The aim of this study was to examine secular trends in the incidence of type 1 diabetes in children aged 0-14 yr in Hungary over the period 1989-2009. Newly diagnosed children with type 1 diabetes aged 0-14 yr in Hungary were prospectively registered from 1989 to 2009. Primary ascertainment of cases was by prospective...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/j.1399-5448.2011.00826.x
更新日期:2012-02-01 00:00:00
abstract:AIMS:Intravenous glucose tolerance testing (IVGTT) is a common test of β-cell function in which a glucose load is administered and insulin and/or C-peptide responses are monitored. Since the first IVGTT may be more stressful and stress may alter β-cell secretion or hepatic insulin extraction, we asked whether there was...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12064
更新日期:2015-03-01 00:00:00
abstract:BACKGROUND:Alterations in glucose metabolism that lead to the development of metabolic and cardiovascular disease may begin already in childhood. OBJECTIVE:This study aims to generate pediatric age and sex-specific reference values for fasting concentrations of glucose, hemoglobin A1c (HbA1c), insulin, C-peptide, and ...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12859
更新日期:2019-08-01 00:00:00
abstract:OBJECTIVES:To assess the ability of reactive hyperemia-peripheral artery tonometry (RH-PAT) to serve as a surrogate marker of endothelial dysfunction in children with type 1 diabetes (T1D). RESEARCH DESIGN AND METHODS:Forty-four children with T1D [age 14.6 +/- 2.7 yr; duration of diabetes 6.01 +/- 4 yr; range of diabe...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/j.1399-5448.2007.00246.x
更新日期:2007-08-01 00:00:00
abstract:AIMS:The cardiovascular risk factor profile of a child as well as the development of body weight are influenced by genetic and childhood factors. Circulating insulin concentrations reflect the metabolic cardiovascular risk and may trigger weight gain. We aimed at identifying parental and childhood factors which may inf...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12109
更新日期:2014-09-01 00:00:00
abstract:OBJECTIVE:Although insulin analogs have dramatically changed diabetes treatment, scarce evidence is available on those effects. We aimed to explore whether glycemic control had improved, the use of insulin analogs had been increased, and hypoglycemic events had decreased over time in Japanese pediatric patients with ty...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12409
更新日期:2017-09-01 00:00:00
abstract:OBJECTIVE:Patient Reported Outcomes Measurement Information System (PROMIS) includes numerous domains to assess functioning among the pediatric population. These domains, however, have not been evaluated for use in children with type 1 diabetes (T1D). The objective of this study was to determine the measurement propert...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.13134
更新日期:2020-10-07 00:00:00
abstract:BACKGROUND:While insulin resistance (IR) is associated with specific metabolite signatures in adults, there have been few truly longitudinal studies in healthy children, either to confirm which abnormalities are present, or to determine whether they precede or result from IR. Therefore, we investigated the association ...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12884
更新日期:2019-11-01 00:00:00
abstract:BACKGROUND:In the non-diabetic population, intramyocellular lipid (IMCL) accumulation is associated with obesity and poor muscle oxygen supply. IMCL levels are increased in type 1 diabetes, but their significance is less clear. METHODS:We studied a group of 16 prepubertal boys (age 6.4-9.9 yr) with type 1 diabetes and...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1034/j.1399-5448.2003.00021.x
更新日期:2003-09-01 00:00:00
abstract:OBJECTIVE:Most youth with type 1 diabetes do not meet the American Diabetes Association (ADA) and International Society for Pediatric and Adolescent Diabetes (ISPAD) targets for hemoglobin A1c (HbA1c), blood pressure (BP), lipids, and body mass index (BMI). We hypothesized that ISPAD/ADA goal achievement would be assoc...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12598
更新日期:2018-05-01 00:00:00
abstract:OBJECTIVE:The Environmental Determinants of Diabetes in the Young (TEDDY) study is designed to identify environmental exposures triggering islet autoimmunity and type 1 diabetes (T1D) in genetically high-risk children. We describe the first 100 participants diagnosed with T1D, hypothesizing that (i) they are diagnosed ...
journal_title:Pediatric diabetes
pub_type: 杂志文章,多中心研究
doi:10.1111/pedi.12066
更新日期:2014-03-01 00:00:00
abstract:BACKGROUND/OBJECTIVE:Type 2 Diabetes (T2DM) is increasing in childhood especially among females and South-Asians. Our objective was to report outcomes from a national cohort of children and adolescents with T2DM 1 year following diagnosis. METHODS:Clinician reported, 1-year follow-up of a cohort of children (<17 years...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12761
更新日期:2018-12-01 00:00:00
abstract:BACKGROUND:Children born small-for-gestational-age (SGA) who experience rapid postnatal catch-up in weight are at risk for central adiposity and hyperinsulinemia. OBJECTIVES:To study the effects of prepubertal metformin intervention over 24 months on the body composition and endocrine-metabolic profile of catch-up SGA...
journal_title:Pediatric diabetes
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1111/pedi.12220
更新日期:2015-11-01 00:00:00
abstract:OBJECTIVE:To examine the extent to which self-regulation skills of adolescents with type 1 diabetes (T1D), including executive functioning and emotion regulation, relate to treatment adherence and glycemic control. METHOD:Participants were 109 adolescents aged 12-18 yr with TID and their primary caregiver who attended...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/j.1399-5448.2010.00692.x
更新日期:2011-06-01 00:00:00
abstract::The prevalence of youth-onset type 2 diabetes is increasing worldwide in parallel with the obesity epidemic. In India, the age at onset of type 2 diabetes had traditionally been a decade or two earlier compared with the western population. Hence, it is not surprising that the prevalence of youth-onset type 2 diabetes ...
journal_title:Pediatric diabetes
pub_type: 杂志文章,评审
doi:10.1111/j.1399-5448.2007.00328.x
更新日期:2007-12-01 00:00:00
abstract::This review highlights the evidence of linking small for gestational age (SGA) with metabolic/cardiovascular disturbances (dysmetabolic syndrome) in later life. The metabolic and cardiovascular complications associated with in utero undernutrition have been identified during the past 10 yr. Reduced fetal growth is ind...
journal_title:Pediatric diabetes
pub_type: 杂志文章,评审
doi:10.1111/j.1399-543X.2004.00057.x
更新日期:2004-09-01 00:00:00
abstract:BACKGROUND:Few diabetes-specific quality of life (QOL) tools are available for young children. OBJECTIVES:To design and evaluate, a new age-specific QOL questionnaire and its associations with treatment regimens and metabolic control. METHODS:Clinical, demographic data and centrally analyzed HbA1c were collected on 1...
journal_title:Pediatric diabetes
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1111/pedi.12602
更新日期:2018-05-01 00:00:00
abstract:OBJECTIVES:The aim of the study was to determine the influence of regular physical activity on ghrelin and IGF-1/IGFBP-3 levels during a diabetes camp. METHODS:Twenty-eight children and adolescents (14 boys; mean age 12.1 yr) with type 1 diabetes mellitus (T1DM, mean duration of diabetes 4.8 yr) attending a 2-wk diabe...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/j.1399-5448.2009.00604.x
更新日期:2010-09-01 00:00:00
abstract::Neonatal diabetes mellitus is a rare (1/400 000 newborns) but potentially devastating condition, which may be transient or permanent; typical symptoms occur within the first 4 wk of life. The transient form is a developmental insulin production disorder that resolves postnatally. Fifty to 60% of cases can be seen as t...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/j.1399-5448.2006.00201.x
更新日期:2006-10-01 00:00:00
abstract::The SLC29A3 gene, encoding hENT3, a member of the equilibrative nucleoside transporter family, has recently been found mutated in Faisalabad histiocytosis, pigmented hypertrichotic dermatosis with insulin-dependent diabetes, familial sinus histiocytosis with massive lymphadenopathy (SHML), and H syndromes. We here rep...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/j.1399-5448.2012.00925.x
更新日期:2013-09-01 00:00:00
abstract:UNLABELLED:Previous studies have shown that vigorous aerobic training programs for obese children result in minimal weight changes, and concluded that they may not be beneficial. Weight change alone may not detect important beneficial changes in body composition associated with vigorous training in these children. Fift...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1034/j.1399-5448.2000.010202.x
更新日期:2000-06-01 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::Monogenic forms of diabetes in children are frequently misclassified as either type 1 diabetes or young-onset type 2 diabetes. There is a paucity of literature regarding pediatric monogenic diabetes in the Indian population. A retrospective analysis of case records of 37 children with monogenic diabetes who were diagn...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.13040
更新日期:2021-02-01 00:00:00
abstract::In connection with the article entitled "A randomized trial comparing the rate of hypoglycemia – assessed using continuous glucose monitoring – in 125 preschool children with type 1 diabetes treated with insulin glargine or NPH insulin (the PRESCHOOL study)" which appeared in [1], we wish to bring the following correc...
journal_title:Pediatric diabetes
pub_type: 已发布勘误
doi:10.1111/pedi.12207
更新日期:2015-09-01 00:00:00