Bone Mineral Density in Egyptian Children with Familial Mediterranean Fever.

BACKGROUND: Familial Mediterranean fever (FMF) has episodic or subclinical inflammation that may lead to a decrease in bone mineral density (BMD). The objective of this study was to assess BMD in Egyptian children with FMF on genetic basis. METHODS: A cross sectional study included 45 FMF patients and 25 control children of both sexes in the age range between 3-16 years old. The patients were reclassified into two groups, namely group I(A) with 23 cases using colchicine for 1 month or less, and group I(B) with 22 cases using colchicine for more than 6 months. For both the patients and control groups, MEFV mutations were defined using molecular genetics technique and BMD was measured by DXA at the proximal femur and lumbar spines. RESULTS: Four frequent gene mutations were found in the patient group E148Q (35.6%), V726A (33.3%), M680I (28.9%), and M694V (2.2%). There were also four heterozygous gene mutations in 40% of the control children. Patients receiving colchicine treatment for less than 1 month had highly significant lower values of BMD at the femur and lumbar spines than the control children (P=0.007, P<0.001). Patients receiving colchicine treatment for more than 6 months had improved values of BMD at femur compared with the control, but there were still significant differences between them in lumbar spine (P=0.036). There were insignificant effect of gene mutation type on BMD and the risk of osteopenia among the patients. CONCLUSION: FMF had a significant effect on BMD. However, regular use of colchicine treatment improves this effect mainly at the femur.

MEFV gene mutations and cardiac phenotype in children with familial Mediterranean fever: a cohort study.

BACKGROUND: Familial Mediterranean fever (FMF) is the most common autoinflammatory disorder in the world. It is characterized by recurrent febrile inflammatory attacks of serosal and synovial membranes. MEFV gene mutations are responsible for the disease and its protein product, pyrin or marenostrin, plays an essential role in the regulation of the inflammatory reactions. Although the disease may carry a potential for cardiovascular disorders because of sustained inflammation during its course, the spectrum of cardiac involvement in children with FMF has not been well studied. We aimed at defining the frequency and spectrum of cardiac affection in children with FMF. The correlation between these affections and MEFV gene mutations was searched for to establish the relationship between cardiac phenotype and the patient's genotype in FMF. METHODS: The present work is a cohort study including 55 patients with the clinical diagnosis of FMF based on the Tel-Hashomere criteria, confirmed by genetic analysis showing homozygous or compound heterozygous mutation of MEFV genes. Fifty age- and sex-matched normal children were included as controls. The entire study group underwent detailed cardiac examination, 12-lead ECG and echocardiography. All data was statistically analysed using SPSS version-15. RESULTS: Patients had an average age of 8.5+/-4.2 years; with an average disease duration of 2.1+/-2.2 years; 28 were males. All controls showed no MEVF gene mutations. The most frequent gene mutation of the studied cases was E148Q mutation seen in 34% of cases and the most frequent compound mutation was E148Q/V726A seen in 16.6% of cases. Echocardiographic examination revealed pericardial effusion in nine patients. Twelve had aortic regurgitation; nine had mitral regurgitation and six had pulmonary regurgitation. The most common mutation associated with pericardial effusion was E148Q/V726A in 5/9 of cases. Valvular involvement were significantly more common in FMF patients with gene mutations. Also cardiac involvement was more common in patients with positive consanguinity. However, these cardiac manifestations showed no correlation to age, family history of FMF, or response to therapy or laboratory data. CONCLUSIONS: In our cohort of children with FMF, cardiac involvement appears to be common. Pericardial effusions are significantly related to presence of mutation types E48Q, P 369S, V726A. These associations may warrant genetic screening of children with FMF to detect cardiac risk.

B-cell activating factor promoter polymorphisms in egyptian patients with systemic lupus erythematosus.

BACKGROUND: Systemic lupus erythematosus (SLE) is a heterogonous autoimmune disease involving most immune cells. Studies have revealed a number of cytokine pathways that play important roles in the disease process. Among these is B- cell activating factor (BAFF), which regulates B-cell maturation, survival, and function. OBJECTIVE: To study the association between BAFF promoter polymorphism and systemic lupus erythematosus (SLE). METHODS: Single nucleotide polymorphisms in the BAFF promoter region; -2841 (T>C), -2701 (T>A), -871 (C>T) were investigated by PCR-RFLP genotyping in fifty Egyptian SLE patients and thirty normal controls. RESULTS: The frequency of mutant alleles of both -871C>T and -2701 T>A was higher among SLE patients than controls (p-value <0.001 and 0.000 respectively). There was a highly significant relationship between -871 C>T polymorphism and SLE (P<0.001), with the sensitivity and the specificity of the test being 100 %, and 70%, respectively. Patients expressing the -2701 T>A allele were seven times more prone to SLE than those with the T/T wild genotype (sensitivity of the test = 78%, specificity = 66.7%, odds ratio = 7.09, C.I at 95% = 2.29-22.64). CONCLUSION: Polymorphisms in the regulatory region of the BAFF gene do contribute to the susceptibility to SLE in Egyptian patients, which indicates BAFF as a potential therapeutic target.

Prevalence and clinical presentations of hepatitis C virus among patients admitted to the rheumatology ward.

To study the prevalence of anti-HCV antibodies among patients admitted to the rheumatology department, Cairo University hospitals, in 6-month period as well as to determine whether chronic HCV infection was the primary cause of their admission or just a concomitant association with the rheumatic disease. One hundred and fifty-seven patients were included in this study. They represent all patients admitted to the rheumatology inpatient department of Cairo University hospitals during the study period. Preset questionnaire including detailed demographic data, cause of admission and clinical manifestations of their disease was obtained for every patient. All patients were screened for HCV antibodies using ELISA technique. Other laboratory and imaging investigations were done according to the patient's diagnosis. Twenty-nine patients (18.5%) were positive for HCV antibody. Eleven patients of them (38%) were admitted due to rheumatic manifestations directly related to chronic HCV infection, which represent 7% of all admitted patients (11/157). HCV antibodies were found in 17.6 and 6.7% among patients with rheumatoid and systemic lupus erythematosus. Arthritis, palpaple purpura, digital gangrene and mononeuritis multiplex were the most common causes of admission related to chronic HCV infection. HCV antibodies were found in 18.5% among admitted patients to the rheumatology ward. The rheumatic manifestations of chronic HCV represent the primary cause of admission in 7% of all admitted patients. HCV screening should be included in the routine investigations for patients presenting to rheumatology departments in countries with high prevalence of chronic HCV infection.