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Cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C) deficiency due to the homozygous PCK1 variant has recently been associated with childhood-onset hypoglycemia with a recognizable pattern of abnormal urine organic acids. In this study 21 children and three adult patients with genetically confirmed PEPCK-C deficiency were diagnosed during the years 2016-2019 and the available biochemical and clinical data were collected. All patients were ethnic Finns. Most patients (22 out of 24) had a previously published homozygous PCK1 variant c.925G>A. Two patients had a novel compound heterozygous PCK1 variant c.925G>A and c.716C>T. The laboratory results showed abnormal urine organic acid profile with increased tricarboxylic acid cycle intermediates and inadequate ketone body production during hypoglycemia. The hypoglycemic episodes manifested predominantly in the morning. Infections, fasting or poor food intake, heavy exercise, alcohol consumption and breastfeeding were identified as triggering factors. Five patients presented with neonatal hypoglycemia. Hypoglycemic seizures occurred in half of the patients (12 out of 24). The first hypoglycemic episode often occurred at the age of 1-2 years, but it sometimes presented at a later age, and could re-occur during school-age or adulthood. This study adds to the laboratory data on PEPCK-C deficiency, confirming the recognizable urine organic acid pattern and identifying deficient ketogenesis as a novel laboratory finding. The phenotype is expanded suggesting that the risk of hypoglycemia may continue into adulthood if predisposing factors are present. This article is protected by copyright. All rights reserved.

Cryopyrin-associated periodic syndrome (CAPS) is caused by a mutation in the NLRP3 gene encoding cryopyrin production. Overproduction of interleukin-1 (IL-1) leads to symptoms that are associated with elevated inflammatory markers, including periodic fever and a rash. We provide a clinical overview of CAPS in children, including three Finnish case studies. CONCLUSION When CAPS has been diagnosed, an IL-1 blockade with biological should be introduced to lessen the symptoms and to prevent the progression of organ damage.

Objective. To evaluate the efficacy of adalimumab in juvenile idiopathic arthritis (JIA)-associated uveitis. Methods. Retrospective observational study of 20 patients with JIA and chronic uveitis on adalimumab treatment. The ocular inflammation and improvement was assessed according to the Standardization of Uveitis Nomenclature criteria. Results. At the initiation of adalimumab, the mean age of patients was 13.4 yrs and the mean duration of uveitis 8.7 yrs. Seventeen (85%) patients had polyarticular JIA and 19 (95%) had previously been on anti-TNF treatment. The mean duration of adalimumab therapy was 18.7 months. Of the 20 patients, 7 (35%) showed improved activity, 1 (5%) worsening activity and in 12 (60%) no change was observed in the activity of uveitis. Those with improved activity were younger and had shorter disease duration. The mean number of flares/yr decreased from 1.9 to 1.4 during adalimumab treatment. Serious adverse events or side-effects were not observed. Seven patients discontinued adalimumab during the follow-up: six because of inefficacy and one because of inactive uveitis. Conclusion. Adalimumab is a potential treatment option in JIA-associated uveitis, even in patients non-responsive to previous other anti-TNF therapy.

To establish a nationwide overview on drug treatment of juvenile idiopathic arthritis (JIA), which is the most frequent form of chronic arthritis (JA) in children and adolescents. The emphasis is on the first 12 months after diagnosis, and any changes in medication practices during the early years of the present millennium are registered.The Social Insurance Institution (SII) in Finland keeps a national register on individuals granted with a special reimbursement for medication of defined chronic diseases. From that register, we identified by the ICD-code of M08 all JA patients aged 16 years or under with an index day from 2000 through 2007. The prescription register of the SII showed the medication purchased for the patients. The register does not cover infused medications given in hospitals. We evaluated the first disease year's medication and the treatment strategy of the very first three months.Within our study period 2000-2007, the proportion of patients using methotrexate during the first year of treatment increased from 54 to 72% (p0.001). The combination of two or more DMARDs became more popular (increased from 16 to 21%) as the initial treatment strategy. These changes parallel a decrease in per oral glucocorticoids. The proportion of JA patients receiving TNFα-blockers during the first year after diagnose reached the level of about 5% during the years 2004 to 007.The drug treatment of patients with recent onset JA has become more intensive during the course of the new millennium in Finland, a fact expected to improve the disease outcome.