Sensor-augmented pump (SAP) therapy can improve glycemic control, compared with multiple daily insulin injections or with insulin pump therapy alone, without increasing the risk of hypoglycemia.
The onset of type 1 diabetes (T1D) is determined by genetic predisposition and environmental factors. The aim of our work was to identify associations between human leukocytes antigen (HLA) class II alleles, environmental factors and T1D in Lithuania. Our case-control study included 124 diabetic children (mean age 9.19 ± 3.94 years) and 78 controls (mean age 10.77 ± 3.36 years). The age ranged from 0 to 15 years. HLA–DRB1, DQA1 and DQB1 alleles were genotyped using polymerase chain reaction. Information concerning the environmental factors was collected via questionnaires. Logistic regression model indicated that three haplotypes: (DR3)– –DQA1*0501–DQB1*0201, (DR4)–DQA1*0301–DQB1*0302 and (DR1)–DQA1*010– –04–DQB1*0501, increased the T1D risk statistically significantly 18.1, 12.3 and 3.4 times, respectively, while (DR11/12/13)–DQA1*05–DQB1*0301 haplotype decreased the risk of T1D 9.1 times. Several different regression models included environmental factors and different sets of risk and protective haplotypes. The results suggest that living in a remote area with lower population density during pregnancy increased the risk of T1D, as well as short breastfeeding, introduction of eggs before 5th month of age and infections during the last 6 months before diagnosis. Smoking during pregnancy as well as rubella and varicella virus infections seemed to decrease the risk of T1D. These associations were revealed while evaluating only environmental factors and when different HLA haplotypes together with environmental factors were included in the regression model. The HLA typing shows that the differences in the incidence of T1D between Lithuania and neighboring countries cannot be explained only by genetics, but lifestyle and/or environmental factors should be considered. A number of studies presented here, have shown conflicting results regarding environmental factors and their associations with T1D. Both genetic and environmental factors play a major role in diabetes development and protection. However, even quite rapidly ongoing changes of environmental factors and lifestyle in Lithuania have not helped us to reveal any clear picture.
Identifying gene variants causing monogenic diabetes (MD) 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 MD in youth with diabetes in Lithuania, uncover potential diabetes-related gene variants, and prospectively introduce precision treatment. First, we assessed all pediatric and most young-adult patients with diabetes in Lithuania (n = 1,209) for diabetes-related autoimmune antibodies. We then screened all antibody-negative patients (n = 153) using targeted high-throughput sequencing of >300 potential candidate genes. In this group, 40.7% had MD, 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 >18–25 years (22.2%). The overall prevalence of MD in youth with diabetes 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 MD. Prospective treatment change was successful in >50% of eligible candidates, with C-peptide >252 pmol/L emerging as the best prognostic factor.
Chronic recurrent multifocal osteomyelitis (CRMO) is a rare auto-inflammatory bone disorder that primarily affects young girls, with a mean age of 10 years at onset. Generally, it is a self-limited disease. However, recent data indicate that more than 50% of patients have a chronic persistent disease and about 20% a recurring course of this condition. Also, there are more cases reported with associated auto-inflammatory and autoimmune diseases. In this case report, we present a rare case of sporadic CRMO in which the patient eventually developed C-ANCA (cytoplasmic anti-neutrophil cytoplasmic antibodies)-associated renal vasculitis and hyperparathyroidism.A 14 year old female patient was brought to the emergency department with a sudden onset of left leg pain and oedema. After physical evaluation and initial investigation, she was diagnosed with femoral and pelvic deep vein thrombosis. While searching for possible thrombosis causes, osteomyelitis of the left leg was identified. Additional CT and MRI scans hinted at the CRMO diagnosis. Due to the multifocal lesions of CRMO, endocrinological evaluation of calcium metabolism was done. The results showed signs of hyperparathyroidism with severe hypocalcaemia. Moreover, when kidney damage occurred and progressed, a kidney biopsy was performed, revealing a C-ANCA associated renal vasculitis. Treatment was started with cyclophosphamide and prednisolone according to the renal vasculitis management protocol. Severe metabolic disturbances and hyperparathyroidism were treated with alfacalcidol, calcium and magnesium supplements. Secondary glomerulonephritis (GN) associated hypertension was treated with ACE (angiotenzine converting enzyme) inhibitors. Anticoagulants were prescribed for deep vein thrombosis. After 1.5 years of treatment, the patient is free of complaints. All microelement and parathormone levels are within normal range. Kidney function is now normal. To date, there are no clinical or diagnostic signs of deep vein thrombosis.This case report presents a complex immunodysregulatory disorder with both auto-inflammatory and autoimmune processes. We hypothesize that the long lasting active inflammation of CRMO may induce an autoimmune response and result in concomitant diseases like C-ANCA-associated vasculitis in our patient. Any potential specific pathogenic relationships between these two rare pathologies may need to be further studied. Furthermore, there is a lack of specific biomarkers for CRMO and more studies are necessary to identify CRMO's characteristic patterns and how to best monitor disease progression.
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