Pediatric Endocrinology, Diabetes and Metabolism最新文献

Continuous glucose monitoring (CGM) systems have revolutionized diabetes management by providing real-time glycemic data, improving control, and reducing the risk of both acute and chronic complications. With an increasing range of CGM systems available on the market, selecting the most appropriate system has become a challenge for both patients and healthcare professionals. This narrative review aims to analyze the available CGM systems and identify the factors that influence the personalized selection of a CGM system for patients with diabetes, based on system functions and features. Factors influencing CGM choice are discussed, including patient age, fear of puncture, physical activity, aesthetics, and financial considerations.

This article examines the legal and ethical obligations of physicians towards minor patients with type 1 diabetes in situations where their legal representatives hinder or prevent treatment. This issue is gaining importance in the context of the observed increase in parents forgoing insulin therapy or follow-up visits in favor of alternative medicine. In such situations, physicians face a dilemma: how to reconcile the parents' right to decide on their child's treatment with their own obligation to protect the child's life and health. The study discusses the scope of physicians' obligations under the law, with particular emphasis on civil and criminal law, including the requirement to notify the family court. It also emphasizes the importance of taking conciliatory measures - such as a written request for the guardian to attend a visit with the child - as a form of early intervention before notifying the authorities. The conclusions point to the need to develop clear procedures for intervention in cases of minor patients with chronic diseases failing to report, to strengthen interinstitutional cooperation, and to provide health education for parents. The article aims to show that the physician's responsibility in such cases goes beyond the medical sphere - it also includes the obligation to respond legally and ethically to a threat to the child's well-being. The article draws on legal provisions and legal acts relevant to the issue under study. Legal literature, including commentaries and scholarly articles, was also analyzed. Documents and materials relevant to the topic were also considered. The study was conducted using a dogmatic method, allowing for a systematic interpretation of legal provisions. A literature review was also employed to organize the positions of the doctrine. Additionally, elements of comparative analysis of available sources were employed to better understand the issues under investigation.

Aldosterone is synthesized in the adrenal zona glomerulosa via the action of the mitochondrial cytochrome P450 enzyme aldosterone synthase (CYP11B2) through sequential enzyme reactions. Pathogenic variants in CYP11B2 result in corticosterone methyloxidase type I deficiency (CMO I), an orphan condition with a potentially lethal electrolyte imbalance in infancy. We report the unique occurrence of CMO I with celiac disease in the first genetically confirmed Polish case of CMO I; a 15-year-old female, diagnosed initially in the neonatal period because of severe hyponatremia, hyperkalemia, metabolic acidosis, and failure to thrive. The patient's clinical course was complicated by protracted electrolyte abnormalities, poor weight gain, and eventual diagnosis of celiac disease, which temporally correlated with abnormal growth patterns. Extensive endocrine assessment, steroid profiling, and next-generation DNA sequencing revealed a homozygous pathogenic variant in CYP11B2 (c.1354G>A; p.Gly452Arg), confirming CMO type I.

Congenital hyperinsulinism (CHI) represents a complex group of genetic disorders causing inappropriate insulin secretion. We report the first case of severe CHI caused by a novel combination of HADH and GHSR mutations, leading to an unusually severe neurological phenotype. A male infant presented at 24 days of life with severe hypoglycemic seizures (0.3 mmol/l), inappropriate hyperinsulinemia (10.31 µUI/ml), and elevated C-peptide (2.64 µg/l). His clinical course was marked by progressive neurological deterioration, evolving from neonatal seizures to West syndrome at 12 months, and subsequently to Lennox-Gastaut syndrome at 3 years. Genetic analysis revealed a previously undescribed combination of a homozygous HADH deletion (5.25 kb, exons 3-4) and a heterozygous GHSR missense variant (c.611C>A, p.Ala204Glu). Therapeutic management was particularly challenging in a resource-limited setting, with unavailability of essential medications such as diazoxide. Despite intensive management with medium-chain triglyceride-enriched formula, levocarnitine, and nocturnal cornstarch, glycemic control remained suboptimal. At 7 years, the patient presents severe psychomotor delay (-4 SD for weight and height) and drug-resistant epilepsy. This case highlights the potential for severe phenotypes in digenic CHI and suggests synergistic effects between fatty acid metabolism and hormonal signaling pathways in glucose homeostasis, opening new perspectives for understanding complex forms of CHI.

Introduction: The study aimed to systematically evaluate whether coronavirus disease (COVID-19) infection and/or vaccination act as environmental triggers for new-onset type 1 diabetes (T1D) in children and adolescents.

Material and methods: We will conduct a systematic review and meta-analysis in accordance with PRISMA 2020 guidelines. PubMed, Embase, Scopus, Web of Science, and Cochrane Library will be searched for studies from 2020 onward. Eligible studies must report new-onset T1D in individuals aged 0-19 years following confirmed SARS-CoV-2 infection or COVID-19 vaccination, with a clearly defined comparator group. Data will be extracted using the Population-Exposure-Comparator-Outcome (PECO) framework, aiming to capture diabetes incidence, diabetic ketoacidosis (DKA) severity, immunologic and genetic markers, direction of effect, and potential confounders. Risk of bias will be assessed with the Newcastle-Ottawa Scale, and GRADE will be used to assess certainty of evidence. A random-effects meta-analysis will be conducted if appropriate.

Expected results: We anticipate mapping the direction of effect (-, ¯, mixed, or = no difference) for each exposure-outcome pair, and identifying gaps related to immunologic markers, diagnostic timing, and confounding factors.

Conclusions: This review will provide a comprehensive synthesis of evidence on infection- and vaccine-triggered pediatric T1D, informing future prospective studies and surveillance efforts.

Introduction: Type 1 diabetes mellitus (T1DM) is a common chronic childhood illness characterized by persistent hyperglycemia and glycosuria, caused by an insufficient amount of insulin due to the immune system attacking b cells in the pancreas. Autoantibodies against GAD65 are present in most individuals with T1DM. They can manifest years before the onset of the illness, acting as a prognostic indicator for the development of autoimmune diabetes. The study's objective was to evaluate glycated hemoglobin (HbA1c) levels and to determine the prevalence of glutamic acid decarboxylase 65 autoantibodies (anti-GAD65) in newly diagnosed Kurdish children with T1DM.

Material and methods: This cross-sectional study analyzed 148 patients with T1DM, aged 1-18 years, in Duhok, Kurdistan, Iraq. The study used blood glucose tests, anti-GAD65 antibodies, and HbA1c levels. The University of Zakho's ethical committee approved the study, and IBM SPSS 26 version software was used to analyze the data.

Results: The overall rate of autoantibody positivity was 70 (47.3%), while 78 (52.7%) did not have anti-GAD65 antibodies. The HbA1c was 11.33 ±2.33% on average among individuals who had just received a T1DM diagnosis. The study found no statistically significant association between anti-GAD65 antibody status and HbA1c levels. Although a trend toward higher HbA1c values was observed in anti-GAD65-negative patients, this did not reach statistical significance.

Conclusions: The study found autoantibody positivity in all age groups, with young people having the highest percentage. The results of this study should prompt further statistical analyses to support or negate the results of this study on a larger population scale.

Introduction: Meliponine honey, derived from stingless bees, has significant therapeutic potential due to its bioactive compounds, such as polyphenols and flavonoids, which contribute to its antioxidant and antidiabetic properties. However, the variations in honey quality based on bee species and geographical origin still require further exploration to maximize its benefits. This study aimed to evaluate the variations in antioxidant and antidiabetic properties of meliponine honey based on stingless bee species and their geographical origins.

Material and methods: This scoping review follows the Joanna Briggs Institute methodology, including a comprehensive literature search in major scientific databases such as PubMed, Scopus, DOAJ, Wiley Online, and Google Scholar. Data from relevant studies were extracted and analyzed using a thematic synthesis approach to identify patterns in the bioactivity of Trigona honey.

Results: A total of 23 articles met the inclusion criteria. The analysis revealed that the antioxidant properties of meliponine honey are influenced by phenolic and flavonoid content, which vary according to geographical origin, local flora, and bee species. The antidiabetic activity of the honey is associated with its ability to inhibit a-amylase and a-glucosidase enzymes and enhance insulin release. Honey from regions such as Kalimantan and Sarawak exhibited higher bioactive content compared to other areas.

Conclusions: Meliponine honey is a promising natural therapeutic agent for diabetes management, with its bioactive quality influenced by bee species, geographical origin, and botanical sources. This study supports further development to optimize the benefits of meliponine honey through holistic approaches and broader clinical trials.

Introduction: Coeliac disease (CD) often coexists with type 1 diabetes mellitus (T1D). Children with double diagnosis are frequently asymptomatic, which raises the question of whether to introduce a strict gluten-free diet (GFD) or not.

Aim of the study: To summarise data on systemic consequences of coeliac disease in children with type 1 diabetes mellitus.

Material and methods: The PubMed database was searched for papers to identify meta-analyses, reviews and clinical trials focusing on children.

Results: Coeliac disease, like type 1 diabetes may adversely influence glycaemic control, growth, weight gain, lipid profile and bone health as well as increase the risk of vascular complications. A strict gluten-free diet, at least partly, prevents the development of systemic complications of both disorders.

Conclusions: Dietary restrictions do not have a negative impact on the quality of life of young diabetic patients hence a gluten-free diet with its multifaceted beneficial effects should be recommended to all children with diabetes and coeliac disease.

Introduction: Hereditary vitamin D resistant rickets (HVDRR) is a rare autosomal recessive disorder marked by end-organ resistance of 1,25-dihydroxyvitamin D secondary to various mutations in the vitamin D receptor gene. The currently accepted treatment modality involves bypassing the affected receptors in the gut with high-dose intravenous calcium. In a few limited case reports, cinacalcet, a calcimimetic, has been used as an adjunctive therapy.

Material and methods: Retrospective chart reviews were conducted to collect the clinical and biochemical data of 8 patients with HVDRR from 5 Saudi families. Four patients received only high-dose calcium, while the remaining 4 received adjuvant cinacalcet. Serum chemistry and PTH levels were measured before and during cinacalcet treatment. Gene sequencing was performed to identify the disease-causing mutation.

Results: All 8 patients exhibited alopecia and secondary hyperparathyroidism. Other clinical and biochemical features of rickets were present to varying degrees. Genetic analysis revealed 3 distinct mutations: a ligand-binding domain mutation in 3 unrelated patients, a ligand-binding domain mutation in 2 sisters, and a missense DNA-binding domain mutation in 3 brothers. While the overall response to therapy was variable, none of the 4 patients who received adjunctive cinacalcet developed hypocalcaemia, and there was some initial promise in improving serum PTH levels.

Conclusions: This series provides new insight into the clinical and biochemical characteristics as well as treatment responses in Saudi children with HVDRR. The findings suggest that cinacalcet is a safe and potentially valuable adjuvant in this understudied population; however, further research is required to verify these results.