Objectives Familial Mediterranean Fever (FMF) is one of the most prevalent periodic fever syndromes; MEFV, the responsible gene for the disease, is in the short arm of chromosome16. In the considerable count of the FMF patients, only one mutation is found in the MEFV and parents, who were the obligatory carriers for that mutation, were asymptomatic. The aim of this study was to evaluate these asymptomatic parents in regard to mutation in MEFV gene and similarity between parents and offspring patients. Methods In this cross-sectional study, asymptomatic parents of FMF patients enrolled the study were referred to periodic fever clinic or pediatric rheumatology clinic of Tehran University of Medical Sciences. The patients should have at least one mutation in MEFV gene and none of them had any family history of autoinflammatory disease. Twelve mutations in MEFV gene were assessed in the parents by Vienna Lab FMF Strip Assay kit by MAS PCR/Reverse hybridization. Results Forty-three patients and their parents participated in the study. Sixty-three percent (27) of patients were male. Onset of disease symptoms in 31 patients (72%) was before 4 years of old. Nine (21%) of the patients had homozygote, 16 (37%) compound heterozygote, and 17(40%) heterozygote for MEFV mutation; there was a case of complex alleles mutations (2%). M694V/M694V in 4 patients (9%) was the most homozygote genotype, and M694V/R761H in 4 (9%) and E148Q in 7 (16%) were the most compound heterozygote and heterozygote genotype, respectively. M694V, M680I, and E148Q were the most mutation in the parents. Overall, 41 patients had mutations similar to their parents' mutation, except 2 whose parents had no mutation, but a patient did. Conclusion It seems that occurrence of new mutations in offspring is not prevalent among FMF patients and there are other reasons for different clinical presentation in similar mutation carriers. On the other hand, in ethnicities with high prevalence of FMF, new mutation in descendant may occur, infrequently.

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BackgroundKawasaki disease (KD) is often complicated by coronary artery damage, including dilatation or aneurysms. IVIG is used with aspirin to prevent coronary artery abnormalities in KD. Since the primary treatment for other vasculitis is the use of corticosteroids, this study has been performed to evaluate the effect of intravenous pulse methylprednisolone therapy in preventing coronary artery lesions in KD.MethodA randomized, single-blind clinical trial was conducted on 40 KD patients aged 6 months to 5 years. Patients were randomized into two groups according to the main treatment plan in addition to aspirin: case group (intravenous methylprednisolone pulse for three consecutive days and then oral prednisolone for 5 days) and control group (intravenous immunoglobulin 2 gram/kg). Echocardiography was performed for all children at least 3 times, during the acute phase, two weeks, and two months later.ResultsData analysis at the end of the study was done on 40 patients (20 patients in each group). There were no significant differences in age and sex distribution, mean fever, and acute phase duration, as well as baseline echocardiography in 2 groups. The frequency of coronary artery lesion was 20% in the case group and 45% in the control group, after two weeks (p<0.05), but there was no significant difference between 2 groups in types of coronary artery lesion after two weeks and the frequency and severity of coronary artery lesion after two months.ConclusionIntravenous methylprednisolone pulse as initial line therapy effectively control systemic and vascular inflammation and decrease coronary artery damage in KD.

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