BACKGROUND: Advances in paediatric type 1 diabetes management and increased use of diabetes technology have led to improvements in glycaemia, reduced risk of severe hypoglycaemia, and improved quality of life. Since 1993, progressively lower HbA1c targets have been set. The aim of this study was to perform a longitudinal analysis of HbA1c, treatment regimens, and acute complications between 2013 and 2022 using data from eight national and one international paediatric diabetes registries. METHODS: In this longitudinal analysis, we obtained data from the Australasian Diabetes Data Network, Czech National Childhood Diabetes Register, Danish Registry of Childhood and Adolescent Diabetes, Diabetes Prospective Follow-up Registry, Norwegian Childhood Diabetes Registry, England and Wales' National Paediatric Diabetes Audit, Swedish Childhood Diabetes Registry, T1D Exchange Quality Improvement Collaborative, and the SWEET initiative. All children (aged ≤18 years) with type 1 diabetes with a duration of longer than 3 months were included. Investigators compared data from 2013 to 2022; analyses performed on data were pre-defined and conducted separately by each respective registry. Data on demographics, HbA1c, treatment regimen, and event rates of diabetic ketoacidosis and severe hypoglycaemia were collected. ANOVA was performed to compare means between registries and years. Joinpoint regression analysis was used to study significant breakpoints in temporal trends. FINDINGS: In 2022, data were available for 109 494 children from the national registries and 35 590 from SWEET. Between 2013 and 2022, the aggregated mean HbA1c decreased from 8·2% (95% CI 8·1-8·3%; 66·5 mmol/mol [65·2-67·7]) to 7·6% (7·5-7·7; 59·4mmol/mol [58·2-60·5]), and the proportion of participants who had achieved HbA1c targets of less than 7% (<53 mmol/mol) increased from 19·0% to 38·8% (p<0·0001). In 2013, the aggregate event rate of severe hypoglycaemia rate was 3·0 events per 100 person-years (95% CI 2·0-4·9) compared with 1·7 events per 100 person-years (1·0-2·7) in 2022. In 2013, the aggregate event rate of diabetic ketoacidosis was 3·1 events per 100 person-years (95% CI 2·0-4·8) compared with 2·2 events per 100 person-years (1·4-3·4) in 2022. The proportion of participants with insulin pump use increased from 42·9% (95% CI 40·4-45·5) in 2013 to 60·2% (95% CI 57·9-62·6) in 2022 (mean difference 17·3% [13·8-20·7]; p<0·0001), and the proportion of participants using continuous glucose monitoring (CGM) increased from 18·7% (95% CI 9·5-28·0) in 2016 to 81·7% (73·0-90·4) in 2022 (mean difference 63·0% [50·3-75·7]; p<0·0001). INTERPRETATION: Between 2013 and 2022, glycaemic outcomes have improved, parallel to increased use of diabetes technology. Many children had HbA1c higher than the International Society for Pediatric and Adolescent Diabetes (ISPAD) 2022 target. Reassuringly, despite targeting lower HbA1c, severe hypoglycaemia event rates are decreasing. Even for children with type 1 diabetes who have access to specialised diabetes care and diabetes technology, further advances in diabetes management are required to assist with achieving ISPAD glycaemic targets. FUNDING: None. TRANSLATIONS: For the Norwegian, German, Czech, Danish and Swedish translations of the abstract see Supplementary Materials section.

• MeSH
• diabetes mellitus 1. typu * epidemiologie   krev   farmakoterapie   MeSH
• dítě MeSH
• glykovaný hemoglobin * analýza   MeSH
• hypoglykemie epidemiologie   MeSH
• hypoglykemika * terapeutické užití   MeSH
• kojenec MeSH
• krevní glukóza * analýza   MeSH
• lidé MeSH
• longitudinální studie MeSH
• mladiství MeSH
• předškolní dítě MeSH
• registrace * statistika a číselné údaje   MeSH
• regulace glykemie statistika a číselné údaje   metody   MeSH
• výsledek terapie MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

OBJECTIVE: This study examined the association between diabetic ketoacidosis (DKA) at type 1 diabetes diagnosis and long-term glycemic outcomes, insulin requirements, BMI SD score (SDS), and diabetes technology uptake in youth. RESEARCH DESIGN AND METHODS: Data were from nine countries (Austria, Czechia, Germany, Italy, Luxembourg, New Zealand, Slovenia, Switzerland, and U.S. [Colorado]), including youth (0.5-15.9 years) diagnosed with type 1 diabetes in 2019-2020 and followed for 2 years thereafter. Participants were divided into three groups: no DKA, nonsevere, and severe DKA at diagnosis. HbA1c, insulin requirements, BMI SDS, and use of technology, including automated insulin delivery (AID), were assessed. RESULTS: The analysis included 9,269 individuals (54.8% males, mean age 9.0 years). DKA at diagnosis was observed in 34.2% of participants and severe DKA in 12.8%. After 1 year, adjusted mean HbA1c was higher in the severe DKA group (7.41%) compared with nonsevere DKA (7.23%, P = 0.001) and no DKA groups (7.14, P < 0.001), and this difference persisted after 2 years (7.58% vs. 7.38% [P < 0.001] and vs. 7.32% [P < 0.001]). Higher BMI SDS was observed in both DKA groups compared with no DKA. The use of AID was associated with lower HbA1c levels compared with other treatment modalities and moderated differences between DKA groups after 2 years of follow-up (P = 0.072). CONCLUSIONS: Severe and nonsevere DKA at type 1 diabetes diagnosis were both associated with persistently higher HbA1c and higher BMI SDS. AID use diminishes the association of DKA at diagnosis and higher HbA1c over time.

• MeSH
• diabetes mellitus 1. typu * epidemiologie   komplikace   krev   MeSH
• diabetická ketoacidóza * epidemiologie   MeSH
• dítě MeSH
• glykovaný hemoglobin metabolismus   MeSH
• hypoglykemika terapeutické užití   MeSH
• inzulin terapeutické užití   MeSH
• inzulinové infuzní systémy MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• následné studie MeSH
• předškolní dítě MeSH
• registrace MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Itálie MeSH
• Lucembursko MeSH
• Německo MeSH
• Nový Zéland MeSH
• Rakousko MeSH
• Slovinsko MeSH
• Švýcarsko MeSH

Genetic factors play a crucial role in determining human height. Short stature commonly affects multiple family members and therefore, familial short stature (FSS) represents a significant proportion of growth disorders. Traditionally, FSS was considered a benign polygenic condition representing a subcategory of idiopathic short stature (ISS). However, advancements in genetic research have revealed that FSS can also be monogenic, inherited in an autosomal dominant manner and can result from different mechanisms including primary growth plate disorders, growth hormone deficiency/insensitivity or by the disruption of fundamental intracellular pathways. These discoveries have highlighted a broader phenotypic spectrum for monogenic forms of short stature, which may exhibit mild manifestations indistinguishable from ISS. Given the overlapping features and the difficulty in differentiating polygenic from monogenic FSS without genetic testing, some researchers redefine FSS as a descriptive term that encompasses any familial occurrence of short stature, regardless of the underlying cause. This shift emphasizes the complexity of diagnosing and managing short stature within families, reflecting the diverse genetic landscape that influences human growth.

• MeSH
• fenotyp MeSH
• lidé MeSH
• nanismus genetika   MeSH
• poruchy růstu * genetika   MeSH
• tělesná výška * genetika   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

CONTEXT: Familial tall stature (FTS) is considered to be a benign variant of growth with a presumed polygenic etiology. However, monogenic disorders with possible associated pathological features could also be hidden under the FTS phenotype. OBJECTIVE: To elucidate the genetic etiology in families with FTS and to describe their phenotype in detail. METHODS: Children with FTS (the life-maximum height in both the child and his/her taller parent > 2 SD for age and sex) referred to the Endocrinology center of Motol University Hospital were enrolled into the study. Their DNA was examined cytogenetically and via a next-generation sequencing panel of 786 genes associated with growth. The genetic results were evaluated by the American College of Molecular Genetics and Genomics guidelines. All of the participants underwent standard endocrinological examination followed by specialized anthropometric evaluation. RESULTS: In total, 34 children (19 girls) with FTS were enrolled in the study. Their median height and their taller parent's height were 3.1 SD and 2.5 SD, respectively. The genetic cause of FTS was elucidated in 11/34 (32.4%) children (47,XXX and 47,XYY karyotypes, SHOX duplication, and causative variants in NSD1 [in 2], SUZ12 [in 2], FGFR3, CHD8, GPC3, and PPP2R5D genes). Ten children had absent syndromic signs and 24 had dysmorphic features. CONCLUSION: Monogenic (and cytogenetic) etiology of FTS can be found among children with FTS. Genetic examination should be considered in all children with FTS regardless of the presence of dysmorphic features.

• MeSH
• dítě MeSH
• fenotyp MeSH
• genetické testování * metody   MeSH
• lidé MeSH
• mladiství MeSH
• poruchy růstu genetika   diagnóza   MeSH
• předškolní dítě MeSH
• tělesná výška * genetika   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Because the causes of combined pituitary hormone deficiency (CPHD) are complex, the etiology of congenital CPHD remains unknown in most cases. The aim of the study was to identify the genetic etiology of CPHD in a well-defined single-center cohort. In total, 34 children (12 girls) with congenital CPHD (growth hormone (GH) deficiency and impaired secretion of at least one other pituitary hormone) treated with GH in our center were enrolled in the study. Their median age was 11.2 years, pre-treatment height was -3.2 s.d., and maximal stimulated GH was 1.4 ug/L. Of them, 30 had central adrenal insufficiency, 27 had central hypothyroidism, ten had hypogonadotropic hypogonadism, and three had central diabetes insipidus. Twenty-six children had a midline defect on MRI. Children with clinical suspicion of a specific genetic disorder underwent genetic examination of the gene(s) of interest via Sanger sequencing or array comparative genomic hybridization. Children without a detected causal variant after the first-tier testing or with no suspicion of a specific genetic disorder were subsequently examined using next-generation sequencing growth panel. Variants were evaluated by the American College of Medical Genetics standards. Genetic etiology was confirmed in 7/34 (21%) children. Chromosomal aberrations were found in one child (14q microdeletion involving the OTX2 gene). The remaining 6 children had causative genetic variants in the GLI2, PROP1, POU1F1, TBX3, PMM2, and GNAO1 genes, respectively. We elucidated the cause of CPHD in a fifth of the patients. Moreover, our study supports the PMM2 gene as a candidate gene for CPHD and suggests pathogenic variants in the GNAO1 gene as a potential novel genetic cause of CPHD.

• Publikační typ
• časopisecké články MeSH

Vztah složení naší stravy a vzniku a léčby diabetes mellitus 1. typu (DM1) je znám již od dob před objevením inzulinu, kdy se poprvé objevila snaha pomocí dietních opatření zpomalit či zastavit progresi onemocnění. Kromě toho je k dietě přistupováno i jako k doplňkové léčbě k inzulinoterapii, jejímž účelem má být snaha o dosažení terapeutických cílů. V rámci dietních opatření v souvislosti s DM1 byl dosud zejména zkoumán vliv umělé dětské výživy, lepku, respektive jeho vysazení, vitaminu D, omega-3 mastných kyselin a sníženého příjmu sacharidů v rámci takzvané nízkosacharidové diety. Cílem tohoto přehledového článku je uceleně shrnout nejnovější vědecké poznatky o nutričních intervencích v různých fázích DM1.

Nutrition and type 1 diabetes (T1D) have been closely linked even before the discovery of insulin where the dietary interventions have been part of the effort to prevent or slow the progression of the disease. Additionally, alternative dietary approaches are sought as an adjuvant therapy to insulin use. The focus is given to these dietary approaches – infant formula, gluten and its exclusion, vitamin D, omega-3 fatty acids and limiting of the carbohydrate intake. The aim of this review is to summarize the scientific knowledge regarding dietary interventions in different stages of T1D.

• MeSH
• bezlepková dieta klasifikace   metody   MeSH
• diabetes mellitus 1. typu * diagnóza   dietoterapie   imunologie   MeSH
• dieta s omezením sacharidů klasifikace   metody   MeSH
• dietoterapie * klasifikace   metody   MeSH
• dítě MeSH
• kalcitriol terapeutické užití   MeSH
• kojenec MeSH
• lidé MeSH
• omega-3 mastné kyseliny terapeutické užití   MeSH
• strava, jídlo, výživa MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• Publikační typ
• přehledy MeSH

Od začátku války na Ukrajině přijala Česká republika více než 360 000 uprchlíků (United Nations High Council for Refugees, 2023), z nichž velkou část tvořily děti, včetně dětí s diabetem 1. typu (T1D). Celkem jsme v devíti centrech léčby dětského diabetu od února 2022 do června 2023 registrovali 124 dětí s T1D z Ukrajiny, které jsme následně sledovali ve tříměsíčních intervalech. Během prvního roku jejich pobytu v ČR došlo k významnému zlepšení průměrného HbA1c o 2,2 mmol/mol za ambulantní návštěvu (p=0,01, CI [-3,2; -1,1]). Největší pokles HbA1c jsme pozorovali u skupiny, u které byly nově nasazeny kontinuální monitory glykemie (CGM) (průměrný pokles o 2,9 mmol/mol za ambulantní návštěvu). Naše výsledky ukazují na nezastupitelnou roli CGM v managementu diabetu 1. typu.

Czechia has received over 360 000 refugees since the beginning of the war on Ukraine (United Nations High Council for Refugees, 2023). A majority of those refugees were women and children including children with type 1 diabetes (T1D). Throughout the duration of our study (February 2022 - June 2023) a total of 124 Ukrainian children with T1D presented into one of the 9 participating centers for pediatric diabetes. We followed up these children every 3 months for HbA1c, CGM values, therapy type and anthropologic measures. During the first year of their stay in Czechia, the HbA1c of these children decreased significantly by 2,2 mmol/mol per visit (p=0.01, CI [-3.2; -1.1]). HbA1c decreased the most in children who newly received CGM in Czechia with average decrease of 2,9 mmol/mol per visit. Our results show further underline the importance of CGM use in T1D management.

• MeSH
• analýza dat MeSH
• diabetes mellitus 1. typu * MeSH
• dítě MeSH
• hodnocení výsledků zdravotní péče MeSH
• kontinuální monitorování glukózy * přístrojové vybavení   MeSH
• lidé MeSH
• management nemoci MeSH
• ozbrojené konflikty MeSH
• uprchlíci * MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• Geografické názvy
• Ukrajina MeSH

INTRODUCTION: The aim of the study was to assess the differences in key parameters of type 1 diabetes (T1D) control associated with treatment and monitoring modalities including newly introduced hybrid closed-loop (HCL) algorithm in children and adolescents with T1D (CwD) using the data from the population-wide pediatric diabetes registry ČENDA. METHODS: CwD younger than 19 years with T1D duration >1 year were included and divided according to the treatment modality and type of CGM used: multiple daily injection (MDI), insulin pump without (CSII) and with HCL function, intermittently scanned continuous glucose monitoring (isCGM), real-time CGM (rtCGM), and intermittent or no CGM (noCGM). HbA1c, times in glycemic ranges, and glucose risk index (GRI) were compared between the groups. RESULTS: Data of a total of 3,251 children (mean age 13.4 ± 3.8 years) were analyzed. 2,187 (67.3%) were treated with MDI, 1,064 (32.7%) with insulin pump, 585/1,064 (55%) with HCL. The HCL users achieved the highest median TIR 75.4% (IQR 6.3) and lowest GRI 29.1 (7.8), both p < 0.001 compared to other groups, followed by MDI rtCGM and CSII groups with TIR 68.8% (IQR 9.0) and 69.0% (7.5), GRI 38.8 (12.5) and 40.1 (8.5), respectively (nonsignificant to each other). These three groups did not significantly differ in their HbA1c medians (51.8 [IQR 4.5], 50.7 [4.5], and 52.7 [5.7] mmol/mol, respectively). NoCGM groups had the highest HbA1c and GRI and lowest TIR regardless of the treatment modality. CONCLUSION: This population-based study shows that the HCL technology is superior to other treatment modalities in CGM-derived parameters and should be considered as a treatment of choice in all CwD fulfilling the indication criteria.

• MeSH
• diabetes mellitus 1. typu * farmakoterapie   MeSH
• dítě MeSH
• glykovaný hemoglobin MeSH
• hypoglykemika terapeutické užití   MeSH
• inzulin terapeutické užití   MeSH
• krevní glukóza MeSH
• lidé MeSH
• mladiství MeSH
• regulace glykemie MeSH
• selfmonitoring glykemie MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• Publikační typ
• časopisecké články MeSH

Diabetes 1. typu (DM1) patří mezi nejčastější chronická onemocnění dětského věku. Jeho incidence u nás dlouhodobě roste. U téměř třetiny z nově diagnostikovaných dětí je při diagnóze přítomna diabetická ketoacidóza (DKA) různého stupně závažnosti. V tomto článku bychom rádi představili pilotní screeningový projekt βetty, který umožňuje odhalit diabetes v jeho preklinických stadiích, a představuje tak účinnou prevenci DKA. Screening, jehož principem je detekce autoprotilátek specifických pro DM1 ze vzorku kapilární krve, je určen všem dětem ve věku od 2 do 18 let.

Type one diabetes (T1D) is one of the most common chronic pediatric diseases with continuously increasing incidence. Approximately one third of newly diagnosed children suffer from diabetic ketoacidosis (DKA). In this article we would like to introduce the βetty project, a pilot T1D screening programme that detects T1D in its early preclinical stages and effectively prevents DKA at T1D onset. The screening can be offered to children from 2 to 18 years of age and is based on T1D specific autoantibody detection in capillary blood.

• MeSH
• autoprotilátky krev   MeSH
• diabetes mellitus 1. typu * diagnóza   krev   patologie   prevence a kontrola   MeSH
• diabetická ketoacidóza diagnóza   epidemiologie   prevence a kontrola   MeSH
• dítě MeSH
• lidé MeSH
• screeningové diagnostické programy * MeSH
• stupeň závažnosti nemoci MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• Publikační typ
• práce podpořená grantem MeSH