Dataset Information

Undiagnosed hypoglycaemia disorders in children detected when hypoglycaemia occurs in the setting of illness: a retrospective study.

ABSTRACT:

Objective

Whether hypoglycaemia incidentally detected during intercurrent illness in children requires an endocrine workup remains controversial. This study aimed to determine the yield of conducting a diagnostic evaluation in this setting and to compare clinical and biochemical features between patients ultimately diagnosed with a hypoglycaemic disorder and those who were not.

Design

Single-center, retrospective review of children referred to endocrinology between January 2013 and December 2018 for evaluation of hypoglycaemia (defined as plasma glucose<3.9 mmol/L (<70 mg/dL)) in the setting of acute illness.

Results

145 patients met eligibility criteria. A hypoglycaemia disorder was identified in 12 patients (8% of the cohort, 17% of those who underwent a diagnostic fast). There were no cases in which diagnosis was established in the absence of a diagnostic fast. Characteristics associated with identifying an underlying disorder included younger age (1.03 years (IQR: 0.05-1.54) vs 2.18 years [IQR: 1.29-3.99], p<0.001), higher bicarbonate level (22±5.5 mmol/L vs 16±3.6 mmol/L, p<0.001), lower frequency of elevated plasma or urine ketones (25% vs 92%, p=0.004) and lower frequency of other documented medical problems (17% vs 50%, p=0.03).

Conclusions

The yield of diagnostic evaluation among children with incidental detection of hypoglycaemia in the setting of illness is not insignificant. We thus recommend that all children with hypoglycaemia in the setting of illness undergo guided diagnostic evaluation. Younger age and absence of ketosis and acidosis at presentation may serve as useful predictors for establishing a diagnosis. Future studies are needed to confirm these findings.

SUBMITTER: Rosenfeld E

PROVIDER: S-EPMC9923327 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature

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Publications

Undiagnosed hypoglycaemia disorders in children detected when hypoglycaemia occurs in the setting of illness: a retrospective study.

Rosenfeld Elizabeth E Alzahrani Ohoud O De León Diva D DD

BMJ paediatrics open 20230201 1

<h4>Objective</h4>Whether hypoglycaemia incidentally detected during intercurrent illness in children requires an endocrine workup remains controversial. This study aimed to determine the yield of conducting a diagnostic evaluation in this setting and to compare clinical and biochemical features between patients ultimately diagnosed with a hypoglycaemic disorder and those who were not.<h4>Design</h4>Single-center, retrospective review of children referred to endocrinology between January 2013 an ...[more]

PMID: 36759017

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Project description:Background: Most children and adolescents infected with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) develop a mild coronavirus disease 2019 (COVID-19) that usually does not require medical intervention. However, a small proportion of pediatric patients develop a severe clinical condition, Multisystem Inflammatory Syndrome in Children (MIS-C). The involvement of epigenetics in the control of the immune response and viral activity prompted us to carry out an epigenomic study to uncover target loci regulated by DNA methylation that could be altered upon the appearance of MIS-C. Methods: Peripheral blood samples were recruited from 43 confirmed MIS-C patients with a median age of 7.7 years, most of whom were of West-Eurasian origin. Four or more organ systems were involved in the majority of patients. 69 non-COVID-19 pediatric samples and 15 COVID-19 pediatric samples without MIS-C were used as controls. The cases in the two groups were mixed and divided into discovery (MIS-C = 29 and non-MIS-C = 56) and validation (MIS-C = 14 and non-MIS-C = 28) cohorts, and balanced for age, gender and ethnic background. We interrogated 850,000 CpG sites of the human genome for DNA methylation variants. Findings: The DNA methylation content of 33 CpG loci was linked with the presence of MIS-C. Of these sites, 18 (54.5%) were located in described genes. The top candidate gene was the immune T-cell mediator ZEB2; and others highly ranked candidates included the regulator of natural killer cell functional competence SH2D1B; VWA8, which contains a domain of the Von Willebrand factor A involved in the pediatric hemostasis disease; and human leukocyte antigen complex member HLA-DRB1; in addition to pro-inflammatory genes such as CUL2 and AIM2. The identified loci were used to construct a DNA methylation profile (EPIMISC) that was associated with MIS-C in both cohorts. The EPIMISC signature was also overrepresented in Kawasaki disease patients, a childhood pathology with also a possible viral trigger, that shares many of the clinical features of MIS-C. Interpretation: We have characterized DNA methylation loci that are associated with the onset of MIS-C. The identified genes are likely contributors to the characteristic exaggerated host inflammatory response observed in these patients. The described epigenetic signature could also provide new targets for more specific therapies for the disorder.

Project description:BackgroundThe current study investigates the incidence, aetiology, and outcome of hypoglycaemia of patients without diabetes in the EMS.MethodsThe study was a retrospective cohort study that utilized electronic EMS patient record system (population of one million). All patients encountered by EMS with plasma glucose ≤3.9 mmol/l from 2009 to 2015 were included in the study and hospital records were screened manually to detect possible reasons for hypoglycaemia. Data from the governmental health insurance agency for all residents in Finland was used to reveal the diabetes status of the patients. Survival of the patients was followed from Population register centre up to six years. Serious hypoglycaemia was defined as plasma glucose ≤3.0 mmol/l.ResultsFrom EMS cases with a plasma glucose measurement a total of 5467 hypoglycaemic patients without diabetes were encountered by EMS during the study period with an incidence of 1082 (CI95% 1019-1148) per 100,000 inhabitants per year, corresponding 41.6%, (CI95% 40.8-42.3) of all hypoglycaemic patients. Of those patients, 3856 [71.6%, (CI95% 70.4-72.8)] were transported to hospital and 910 [23.2%, (CI95% 22.0-24.6)] had serious hypoglycaemia. The three main diagnosis groups that appeared in the subsequent hospital treatment associated with hypoglycaemia in all transported cases without diabetes as well with serious hypoglycaemia cases were: alcohol abuse [41.2%, (CI95% 39.7-42.8) and 42.2%, (CI95% 39.0-45.4)], hypothermia [17.2%, (CI95% 16.0-18.4) and 27.4%, (CI95% 24.6-30.4)], and malnutrition [16.9%, (CI95% 15.8-18.1) and 25.1%, (CI95% 22.4-28.0)]. Mortality ranged from 0.6-65.4% depending of admission reason and increased significantly at long-term. Non-Diabetics survival was less than with diabetics, when serious hypoglycaemia was present.DiscussionThe most common possible hypoglycaemia related aetiological causes encountered in the EMS, alcohol abuse, hypothermia, and malnutrition, although frequent are often relatively benign conditions. These possible causes of hypoglycaemia can often be treated at scene or need only short hospital admissions. Hence they are not so prevalent in hospital studies.ConclusionsHypoglycaemia without diabetes is commonly observed among the hypoglycaemic EMS cases. Main causes for it are alcohol abuse, hypothermia, and malnutrition. Mortality correlated with age, higher priority dispatch codes, and plasma glucose rate in multivariate logistic regression analysis. Some of the etiological subgroups carry a markedly high mortality rate.

Project description:Small for gestational age (SGA) newborns are at risk of developing neonatal hypoglycaemia. SGA newborns comprise a heterogeneous group including both constitutionally small and pathologically growth restricted newborns. The process of fetal growth restriction may result in brain sparing at the expense of the rest of the body, resulting in disproportionally small newborns. The aim of this study was to discover whether body proportionality influences the risk of developing neonatal hypoglycaemia in SGA newborns. A retrospective cohort study was performed in 402 newborns who were SGA without additional risk factors for hypoglycaemia. Body proportionality was classified in two ways: (1) using symmetric (sSGA) or asymmetric (aSGA), defined as head circumference (HC) below or above the 10th percentile, respectively; (2) using cephalization index (HC/birth weight), standardized for gestational age. Hypoglycaemia was observed in 50% of aSGA and 40.9% of sSGA newborns (P-value 0.12). Standardized CI in newborns with hypoglycaemia was higher compared to newborns without hypoglycaemia (median 1.27 (1.21-1.35) versus 1.24 (1.20-1.29); (P 0.002)). Multivariate logistic regression analyses showed both CI and standardized CI to be associated with the occurrence of hypoglycaemia (OR 1.48 (1.24-1.77) and OR 1.44 (1.13-1.83), respectively). The majority of hypoglycaemic events (96.1%) occurred in the first 6 h after birth. Conclusion: Body proportionality might be of influence, depending on the classification used. Larger prospective studies with a clear consensus definition of body proportionality are needed. What is Known: • Neonatal hypoglycaemia is an important complication in newborns. • Small for gestational age (SGA) newborns are more vulnerable to hypoglycaemia. What is New: • Higher incidence of hypoglycaemia was not observed in asymmetric SGA compared to symmetric SGA, but standardized cephalization index was associated with increased likelihood of hypoglycaemia. • Consensus-based definitions of body proportionality in newborns are needed.

Dataset Information

Undiagnosed hypoglycaemia disorders in children detected when hypoglycaemia occurs in the setting of illness: a retrospective study.

Objective

Design

Results

Conclusions

Publications

Undiagnosed hypoglycaemia disorders in children detected when hypoglycaemia occurs in the setting of illness: a retrospective study.

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