Complement-4 Deficiency in a Child with Systemic Lupus Erythematosus Presenting with Standard Treatment-Resistant Severe Skin Lesion

The complement system is of great importance in systemic lupus erythematosus. Complete genetically determined deficiencies are with few exceptions reported for the various complement proteins, and most of the deficiency states are rare. Deficiencies of the factors in the classical pathway are also associated with development SLE and SLE-like disorders. Most of the patients with lupus present skin involvement. Approximately, 75–95% of patients with cutaneous lupus erythematosus respond to antimalarial therapy and/or topical glucocorticosteroids. Immunosuppressive agents are usually considered a second-line approach in patients with resistant disease. In this study, we present the clinical features and determine the molecular basis responsible for the complete C4A and C4B deficiencies in a lupus patient presented subacute cutaneous lupus erythematosus and resistance to treatment

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

PubMe

A validation of diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever 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

Rapidly progressive glomerulonephritis in a child with Henoch-Schönlein Vasculitis and familial Mediterranean fever

Henoch-Schonlein Vasculitis (HSV) is systemic small vessel vasculitis involving the skin, kidney, joints, and gastrointestinal tract. The proportion of patients reported to have renal involvement varies between 20% and 80%. Rapidly progressive glomerulonephritis (RPGN)is rare syndrome in children, characterized by clinical features of glomerulonephritis (GN) and rapid loss of renal function. We present a severe kidney involvement in a 14 year old boy with HSV in who is carring MEFV mutation. A 14 year old boy had developed sudden onset of palpable purpuric rash on his extensor surfaces of lower extremities. He had elevated an erythrocyte sedimentation rate (ESR) (45 mm/h), C-reactive protein (3.74 mg/dl), serum urea 66 mg/dl, serum creatinine 1.8 mg/dl. Also, he had hypocomplementemia. Antinuclear antibody, anti ds DNA, antineutrophil cytoplasmic antibody, anticardiolipine antibodies were negative. Urinalysis revealed macroscopic hematuria and proteinuria with a 24-h urinary protein excretion of 55 mg/m2/h. The renal biopsy specimen showed crescentic and necrotizing glomerulonephritis. He had also M694V/E148Q compound heterozygote mutation. Clinical symptoms and renal failure resolved with intermittant hemodialysis and medical therapy

The Turkish Version of the Juvenile Arthritis Multidimensional Assessment Report (JAMAR)

The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Turkish language. The reading comprehension of the questionnaire was tested in 10 JIA parents and patients. Each participating centre was asked to collect demographic, clinical data and the JAMAR in 100 consecutive JIA patients or all consecutive patients seen in a 6-month period and to administer the JAMAR to 100 healthy children and their parents. The statistical validation phase explored descriptive statistics and the psychometric issues of the JAMAR: the 3 Likert assumptions, floor/ceiling effects, internal consistency, Cronbach\u27s alpha, interscale correlations, test-retest reliability, and construct validity (convergent and discriminant validity). A total of 466 JIA patients (13.7% systemic, 40.6% oligoarticular, 22.5% RF negative poly-arthritis, and 23.2% other categories) and 93 healthy children were enrolled in four centres. The JAMAR components discriminated well-healthy subjects from JIA patients. All JAMAR components revealed good psychometric performances. In conclusion, the Turkish version of the JAMAR is a valid tool for the assessment of children with JIA and is suitable for use both in routine clinical practice and clinical research

Biological Agents in Familial Mediterranean Fever Focusing on Colchicine Resistance and Amyloidosis

WOS: 000354611700011PubMed ID: 25760087Familial Mediterranean fever (FMF) is the most common hereditary autoinflammatory syndrome. FMF is caused by mutations in the MEFV gene which encodes the pyrin protein. FMF is characterized by sporadic, paroxysmal attacks of fever and serosal inflammation, lasting 1-3 days. Patients may develop renal amyloidosis. Colchicine prevents attacks and renal amyloidosis. 5% to 10% of the patients with FMF are resistant or intolerant to colchicine. Colchicine resistant patients may receive biological therapies. Anti-interleukin-1 drugs are the most important agents of biological treatments. In this review, colchicine resistance and treatment options will be evaluated

Long-term effectiveness and safety of canakinumab in pediatric familial Mediterranean fever patients

Background: Little is known about the long-term efficacy and safety of canakinumab in paediatric FMF patients. Aim: To present the single centre experience of colchicine-resistant paediatric-onset FMF patients who were treated with canakinumab by off-label use since 2012. Methods: The hospital files of 15 children who used canakinumab were retrospectively evaluated. Clinical and laboratory data of each visit were recorded. Drug-related adverse events were recorded. Complete remission was described as no attacks and normal acute phase reactants; partial remission was defined as decrease in severity and rate of attacks and/or elevated acute phase reactants with anti-IL-1 treatment. Results: The average duration of canakinumab use was 23.9 months (min:12, max:58 months). Twelve patients were M694V homozygotes. Eleven patients achieved complete remission after the first dose at 2 months and 12 patients at 6 months. Canakinumab interval was shortened in 2 patients from 150 mg/8 weeks to 150 mg/4 weeks. Except one, 14 patients achieved complete remission by 12 months. Two patients had mild urinary tract infections. One patient had bronchopneumonia requiring hospitalization. Two patients had teeth abscess. There were no serious adverse events such as opportunistic infections, malignancies, or deaths. Besides, no significant laboratory abnormalities occurred in complete blood count parameters, liver and kidney function tests. Conclusion: To the best of our knowledge, this is the longest outcome study about canakinumab use in paediatric FMF patients. This study suggested that canakinumab is safe and effective in children with FMF in the long term