The carrier rate and spectrum of MEFV gene mutations in central and southeastern European populations.

OBJECTIVES: Familial Mediterranean fever (FMF) is an autosomal-recessive disorder caused by mutations in MEFV gene. Eastern Mediterranean populations have the highest number of carriers, whereas western Mediterranean populations are less frequently affected. The aim of this study was to determine the carrier rate and spectrum of MEFV gene mutations in apparently healthy populations and in suspected FMF patients from central and southeastern European (CSEE) countries. METHODS: We screened 507 apparently healthy persons from 5 CSEE countries. Exons 2 and 10 of the MEFV gene were PCR amplified and subsequently sequenced with ABI prism310 genetic analyser. Six most common mutations in the MEFV gene were tested: V726A, K695R, M694V, M694I, M680I in exon 10, and E148Q in exon 2. In suspected FMF patients we screened all MEFV exons in selected cases. RESULTS: The overall carrier frequency of all MEFV mutations was higher than expected (9.3%). In the whole cohort we did not find any apparently healthy persons with two mutations. Heterozygous mutations were found in apparently healthy subjects from different CSEE countries as follows: Macedonia 16%, Serbia 11%, Bosnia and Herzegovina 8%, Slovenia 6% and Hungary 5%. The most common mutation in healthy controls was K695R, appearing in 40% of mutated alleles. The most common mutation in suspected FMF patients was M694V, followed by K695R. CONCLUSIONS: We found a higher than expected carrier rate of MEFV gene mutations in populations from CSEE countries. It is interesting to note that 40% of detected carriers carry the K695R mutation.

Performance of current guidelines for diagnosis of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis.

OBJECTIVE: To compare the capacity of the 2004 diagnostic guidelines for hemophagocytic lymphohistiocytosis (HLH-2004) with the capacity of the preliminary diagnostic guidelines for systemic juvenile idiopathic arthritis (JIA)-associated macrophage activation syndrome (MAS) to discriminate MAS complicating systemic JIA from 2 potentially confusable conditions, represented by active systemic JIA without MAS and systemic infection. METHODS: International pediatric rheumatologists and hemato-oncologists were asked to retrospectively collect clinical information from patients with systemic JIA-associated MAS and confusable conditions. The ability of the guidelines to differentiate MAS from the control diseases was evaluated by calculating the sensitivity and specificity of each set of guidelines and the kappa statistics for concordance with the physician's diagnosis. Owing to the fact that not all patients were assessed for hemophagocytosis on bone marrow aspirates and given the lack of data on natural killer cell activity and soluble CD25 levels, the HLH-2004 guidelines were adapted to enable the diagnosis of MAS when 3 of 5 of the remaining items (3/5-adapted) or 4 of 5 of the remaining items (4/5-adapted) were present. RESULTS: The study sample included 362 patients with systemic JIA and MAS, 404 patients with active systemic JIA without MAS, and 345 patients with systemic infection. The best capacity to differentiate MAS from systemic JIA without MAS was found when the preliminary MAS guidelines were applied. The 3/5-adapted HLH-2004 guidelines performed better than the 4/5-adapted guidelines in distinguishing MAS from active systemic JIA without MAS. The 3/5-adapted HLH-2004 guidelines and the preliminary MAS guidelines with the addition of ferritin levels ≥500 ng/ml discriminated best between MAS and systemic infections. CONCLUSION: The preliminary MAS guidelines showed the strongest ability to identify MAS in systemic JIA. The addition of hyperferritinemia enhanced their capacity to differentiate MAS from systemic infections. The HLH-2004 guidelines are likely not appropriate for identification of MAS in children with systemic JIA.

[Unusual therapeutic approach in treatment of pulmonary tuberculosis in six year old girl]. / Nuobicajen terapljski pristup lijecenja plucne forme tuberkuloze kod sestogodisnje djevojcice.

We report about interesting case of treatment of pulmonary tuberculosis in 6-year old girl. Antituberculotic therapy induced toxic hepatitis (rise of transaminases, indirect hiperbilirubinemia). She was treated with streptomycin, etambutol, ciprofloxacyn and systemic corticosteroides. Two gallbladder stones and high-density sediment were diagnosed after ultrasound examination which could be a side effect of the therapy or previous findings.

[Secondary autoimmune hemolytic anemia caused by epidemic parotitis virus]. / Sekundarna autoimuna hemoliticka anemija uzrokovana virusom epidemijskog parotitisa.

UNLABELLED: We report a case of mumps virus (VM) caused secondary autoimmune hemolytic anemia (AIHA). A 12-year-old boy was hospitalized at Paediatric Clinic of Sarajevo because of haemolytic anaemia followed by disturbed consciousness. Idiopathic hemolytic anemia was diagnosed on the basis of anamnesis, detailed clinical examination and laboratory analysis. The boy responded well to the therapy (corticosteroides, immunoglobulines, transfusions of red blood cells without buffy coat) with improvement of general condition and clinical aspect. Ninth day since the beginning of illness, firstly one than another parotide gland were enlarged, painful, followed by swallow problem and erythema of Stensen's duct. Epidemic parotitis were diagnosed on the basis of high amylasa in serum and urine. CONCLUSION: AIHA could be seen as primary disease. But, in paediatric population it is more often only one manifestation of underlying disease which we should search for.