Evaluation of the current disease severity scores in paediatric FMF: Is it necessary to develop a new one?

Objectives: Modified adult disease severity scoring systems are being used for childhood FMF. We aim to test the clinical consistency of two common severity scoring systems and to evaluate the correlation of scores with the type of FMF mutations in paediatric FMF patients since certain mutations are prone to severe disease.Methods. Two hundred and fifty-eight children with FMF were cross-sectionally studied. Assessment of the disease severity was performed by using the modified scoring systems of Mor et al. and Pras et al. Genetic analysis was performed using PCR and restriction endonuclease digestion methods for the presence of 15 FMF gene mutations. FMF mutations were grouped into three based on well-known genotypic-phenotypic associations. Correlation between the mutation groups and the severity scoring systems was assessed. The consistency of the severity scoring systems was evaluated.Results. The results of two scoring systems were not statistically consistent with each other (κ = 0.171). This inconsistency persisted even in a more homogeneous subgroup of patients with only homozygote mutations of M694V, M680I and M694I (κ = 0.125). There was no correlation between the mutation groups and either of the scoring systems (P = 0.002, r = 0,196 for scoring systems of Mor et al.; P = 0.009, r = 0.162 for Pras et al.).Conclusions. The inconsistency of the two scoring systems and lack of correlation between the scoring systems and mutation groups raises concerns about the reliability of these scoring systems in children. There is a need to develop a scoring system in children based on a prospective registry. © The Author 2011. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved

Effect of ANA positivity on clinical picture of the JIA: should ANA positive JIA be classified as a different group?

PubMe

Clinical and demographic characteristics of children with familial mediterranean fever in Central Anatolia

PubMe

Behçet disease: evaluation of clinical manifestations in Turkish children

PubMe

Comparison of the efficacy of once- and twice-daily colchicine dosage in pediatric patients with familial Mediterranean fever - a randomized controlled noninferiority trial

Background: In this study, we examined the efficacy and safety of a once-daily dosage schema of colchicine compared with a twice-daily dosage schema in pediatric patients with familial Mediterranean fever (FMF). Methods: In this 24-week, multicenter, randomized controlled noninferiority trial, pediatric patients newly diagnosed with FMF carrying a homozygous or compound heterozygous mutation and not receiving any treatment were included. Patients were randomly assigned using a block randomization method to receive treatment with a once- or twice-daily dosage. Clinical and laboratory characteristics and medication side effects were recorded and compared between groups. The study was carried out in compliance with Good Clinical Practice and the Consolidated Standards for Reporting of Trials (CONSORT) statement. Results: A total of 92 patients were selected, and 79 patients completed the study. There were 42 patients in the once-daily dosage group and 37 in the twice-daily dosage group. The results indicated that the once-daily dosage was not inferior to the twice-daily dosage regarding decrease in attack frequency and duration as well as improvement in clinical findings and Mor severity scores. Alterations in laboratory findings indicating inflammation, such as erythrocyte sedimentation rate, C-reactive protein, and serum amyloid A, were similar in both groups. The rates of drug side effects were similar between the once- and twice-daily dosage groups, implying comparable safety of colchicine, with the exception of diarrhea, which was slightly higher in the once-daily dosage group. Conclusions: Using colchicine with either a once- or twice-daily dosage provides similar clinical and laboratory improvements. Considering both efficacy and safety, colchicine can be prescribed with a once-daily dosage. Trial Registration ID: ClinicalTrials.gov identifier NCT02602028. Registered 5 November 2015

Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome

Background and purpose Periosteal new bone formation and cortical hyperostosis often suggest an initial diagnosis of bone malignancy or osteomyelitis. In the present study, we investigated the cause of persistent bone hyperostosis in the offspring of two consanguineous parents

An Unusual Cause of Pseudopapillary Oedema: Hyperphosphatemic Hyperostosis Syndrome

WOS: 000374734400017PubMed: 26757489For the first time, we report hyperphosphatemic hyperostosis syndrome as a cause for pseudopapillary oedema in a pediatric case. Clinical findings are presented and discussed with tomographic evaluation (optical coherence tomography and Heidelberg retinal tomography) of optic discs, visual-evoked potentials, and visual fields

A pilot study on treatment of infantile cystinosis with mesenchymal stem cells

Infantile cystinosis is a lysosomal storage disease leading to end stage kidney disease at early ages. There is no effective treatment and patients require long term dialysis or kidney transplant for survival. We present our experience on three affected children who received HLA matched allogeneic stem cell transplant. The protocol used was novel and designed to promote engraftment. The primary endpoint was safety for treatment related mortality or morbidity; All three children survived without serious adverse effects during extended follow up for over 4 years. Although we could not prove engraftment, all three children met secondary end point of sustained target functions over a 6 month follow-up. Further studies are warranted to further evaluate safety and efficacy of MSC treatment for infantile cystinosis