High diabetes distress level was found in 22.8% of participants. Lack of confidence in self-care (6.0 vs 3.0, p=0.002), negative emotional consequences (10.0 vs 6.0, p=0.004), and overall score (18.75 vs 11.25, p=0.002) were higher in adult than in adolescent males, when adjusted for age at T1D onset. Negative emotional consequences (13.0 vs 10.0, p=0.005) and overall score (25.0 vs 20.0, p=0.016) were higher in adult compared to adolescent females, when adjusted for age at T1D onset. Lack of confidence in self-care (6.0 vs 3.0, p=0.002), negative emotional consequences (10.0 vs 6.0, p=0.015), and overall score (20.0 vs 11.2, p=0.005) were higher in adolescent females compared to males, when adjusted for age at T1D onset. Negative emotional consequences score was higher in adult females compared to males (13.0 vs 10.0, p=0.029), when adjusted for age at T1D onset. In conclusion, our findings show that patients with T1D have greater burden of diabetes distress in emerging adulthood than in adolescence and add to evidence suggesting the importance of addressing diabetes distress in clinical care and the necessity of wider picture beyond the physical manifestation of diabetes to be taken into consideration.
Identifying gene variants causing monogenic diabetes increases understanding of disease etiology and allows for implementation of precision therapy to improve metabolic control and quality of life. Here, we aimed to assess the prevalence of monogenic diabetes in diabetic youth in Lithuania, uncover potential diabetes-related gene variants, and prospectively introduce precision treatment. First, we assessed all pediatric and most young adult diabetic patients in Lithuania (n = 1209) for diabetesrelated autoimmune antibodies. We then screened all antibody-negative patients using targeted high-throughput sequencing of more than 300 potential candidate genes. In this group, 40.7% had monogenic diabetes, with the highest percentage (100%) in infants (diagnosis at ages 0-12 months), followed by those diagnosed at ages >1-18 years (40.3%) and at >18-25 years (22.2%). The overall prevalence of monogenic diabetes in diabetic youth in Lithuania was 3.5% (1.9% for GCK diabetes, 0.7% for HNF1A, 0.2% for HNF4A and ABCC8, 0.3% for KCNJ11, and 0.1% for INS). Furthermore, we identified likely pathogenic variants in 11 additional genes. Microvascular complications were present in 26% of those with monogenic diabetes. Prospective treatment change was successful in over 50% of eligible candidates, with C-peptide over 252 pmol/L emerging as the best prognostic factor.
Cardiovascular risk and obesity are becoming major health issues among individuals with type 1 diabetes (T1D). The aim of this study was to evaluate cardiovascular risk factors and obesity in youth with T1D in Lithuania. Methods. 883 patients under 25 years of age with T1D for at least 6 months were investigated. Anthropometric parameters, blood pressure, and microvascular complications were evaluated, and the lipid profile and HbA1c were determined for all patients. Results. Study subjects’ mean HbA1c was 8.5±2%; 19.5% were overweight and 3.6% obese. Hypertension and dyslipidemia were diagnosed in 29.8% and 62.6% of participants, respectively. HbA1c concentration was directly related to levels of total cholesterol (r=0.274, p<0.001), LDL (r=0.271, p<0.001), and triglycerides (r=0.407, p<0.001) and inversely associated with levels of HDL (r=0.117, p=0.001). Prevalence of dyslipidemia increased with duration of diabetes (p<0.05). Hypertension was more prevalent in overweight and obese compared to normal-weight patients (40.6 and 65.6 vs. 25.6%, respectively, p<0.001). Frequency of microvascular complications was higher among patients with dyslipidemia (27.2 vs. 18.8%, p=0.005) and among those with hypertension (25.9 vs. 23.2%, p<0.001). Conclusion. The frequency of cardiovascular risk factors is high in youth with T1D and associated with diabetes duration, obesity, and metabolic control.
Background and objectives: This study aimed to assess the clinical significance of serum cystatin C in the early diagnosis of renal injury and its association with dyslipidemia in young T1D patients. Materials and Methods: A total of 779 subjects were evaluated for kidney function by estimating glomerular filtration rate (eGFR) based on serum creatinine (eGFRcreat) and cystatin C (eGFRcys). Results:The median age of study subjects was 16.2 years (2.1;26.4), diabetes duration—5.3 years (0.51;24.0). The median of HbA1c was 8% (5.2;19.9) (64 mmol/mol (33.3;194)); 24.2% of participants had HbA1c < 7% (53 mmol/mol). Elevated albumin excretion rate was found in 13.5% of subjects. The median of cystatin C was 0.8 mg/L (0.33;1.71), the median of creatinine—63 µmol/L (6;126). The median of eGFRcys was lower than eGFRcreat (92 mL/min/1.73 m2 vs. 101 mL/min/1.73 m2, p < 0.001). A total of 30.2% of all patients were classified as having worse kidney function when using cystatin C vs. creatinine for eGFR calculation. Linear correlations were found between cystatin C and HbA1c, r = −0.088, p < 0.05, as well as cystatin C and HDL, r = −0.097, p < 0.01. Conclusions: This study showed that cystatin C might be used as an additional biomarker of early kidney injury in young patients with T1D.
BackgroundInitial classification of diabetes of young may require revision to improve diagnostic accuracy of different forms of diabetes.The aim of our study was to examine markers of beta-cell autoimmunity in a cohort of young (0–25 years) patients with type 1 diabetes and compare the presentation and course of the disease according to the presence of pancreatic antibodies.MethodsCross-sectional population-based study was performed covering 100% of pediatric (n = 860) and 70% of 18–25 years old adult patients (n = 349) with type 1 diabetes in Lithuania.ResultsNo antibodies (GAD65, IA-2, IAA and ICA) were found in 87 (7.5%) cases. Familial history of diabetes was more frequent in those with antibodies-negative diabetes (24.1 vs. 9.4%, p < 0.001). Gestational age, birth weight and age at diagnosis was similar in both groups. Ketosis at presentation was more frequent in patients with autoimmune diabetes (88.1 vs. 73.5%, p < 0.05). HbA1c at the moment of investigation was 8.6 (3) vs. 8.7 (2.2)% in antibodies-negative and antibodies-positive diabetes groups, respectively, p > 0.05. In the whole cohort, neuropathy was found in 8.8% and nephropathy - in 8.1% of cases, not depending on autoimmunity status. Adjusted for age at onset, disease duration and HbA1c, retinopathy was more frequent in antibodies-negative subjects (13.8 vs. 7.8%, p < 0.05).ConclusionAntibodies-negative pediatric and young adult patients with type 1 diabetes in this study had higher incidence of family history of diabetes, higher frequency of retinopathy, less frequent ketosis at presentation, but similar age at onset, HbA1c, incidence of nephropathy and neuropathy compared to antibodies-positive patients.
Introduction: Patients with type 1 diabetes mellitus (T1DM) may present with diabetic ketoacidosis (DKA) at diagnosis. Young age (especially < 2 years), diagnostic error, delayed treatment, and residence in a country with low T1DM prevalence are DKA risk factors. Objectives: We studied the initial clinical presentations and DKA prevention in T1DM patients.Methods: We accessed medical records of T1DM patients who were treated in our hospital in July 2018. We noted their age at diagnosis, symptoms, and duration of symptoms. We then classified patients according to DKA severity and noted their chief complaints at the first visit percentages of patients who had symptoms characteristic of T1DM, and blood glucose, glycated hemoglobin (HbA1c), and blood C-peptide levels.Results: We treated 49 patients (aged 14.2±5.9 years; 18 male, 31 female). We assessed initial clinical presentations in 45 patients,
IntroductionThe aim of this study was to perform familial co-segregation analysis and functional trial in vivo during mixed meal tolerance test (MMTT) of novel variants in diabetes candidate genes.Research design and methodsIt is a continuation of the project “Genetic diabetes in Lithuania” with the cohort of 1209 patients with diabetes. Prior screening for autoimmune markers confirmed type 1 diabetes (T1D) diagnosis in 88.1% (n=1065) of patients, and targeted next-generation sequencing identified 3.5% (n=42) pathogenic variants in MODY genes. Subsequently, 102 patients were classified as having diabetes of unknown etiology. 12/102 were found to have novel variants in potential diabetes genes (RFX2,RREB1,SLC5A1(3 patients with variants in this gene),GCKR,MC4R,CASP10,TMPRSS6,HGFAC,DACH1,ZBED3). Co-segregation analysis and MMTT were carried out in order to study beta-cell function in subjects with specific variants.ResultsMMTT analysis showed that probands with variants inMC4R,CASP10,TMPRSS6,HGFAC, andSLC5A1(c.1415T>C) had sufficient residual beta-cell function with stimulated C-peptide (CP) >200 pmol/L. Seven individuals with variants inRFX2,RREB1,GCKR,DACH1,ZBED3andSLC5A1(c.1415T>C, and c.932A>T) presented with complete beta-cell failure. No statistical differences were found between patients with sufficient CP production and those with complete beta-cell failure when comparing age at the onset and duration of diabetes. Nineteen family members were included in co-segregation analysis; no diabetes cases were reported among them. Only in patient with the variant c.1894G>A inRFX2gene, none of the family members were affected by proband’s variant.ConclusionsFunctional beta-cell study in vivo allowed to select five most probable genes for monogenic diabetes. Familial co-segregation analysis showed that novel variant inRFX2gene could be a possible cause of diabetes. Future functional analysis in vitro is necessary to support or rule out the genetic background as a cause of diabetes.
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