The expanded clinical profile and the efficacy of colchicine therapy in Egyptian children suffering from familial Mediterranean fever: a descriptive study.

BACKGROUND: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by self-limiting recurrent attacks of fever and serosal inflammation, leading to abdominal, thoracic or articular pain. OBJECTIVE: To detect variable clinical presentations and genotypic distribution of different groups of FMF patients and the efficacy of colchicine therapy in treatment of these groups of FMF after one year. METHODS: A cross-sectional study was conducted on 70 patients already diagnosed with FMF and following-up at the Rheumatology Clinic, Children's Hospital - Cairo University. Diagnosis of FMF was determined according to Tel Hashomer criteria for FMF. All patients were subjected to a questionnaire including detailed history with emphasis on clinical manifestations and colchicine dose to control attacks. Mutational analysis was performed for all study subjects covering 12 mutations in the MEFV gene: E148Q, P369S, F479L, M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, A744S and R761H. Response to colchicine treatment was evaluated as complete, incomplete and unresponsive. RESULTS: Out of the 70 patients- 40 males and 30 females- fever was the most common presenting feature, followed by abdominal pain, and arthritis; documented in 95.7%, 94.3%, and 77.1% of cases respectively. Mutational analysis detected gene mutation on both alleles in 20 patients (homozygotes), on only 1 allele in 40 patients (heterozygotes), and on none of the alleles (uncharacterized cases). Mild to moderate disease severity score (according to Tel Hashomer key to severity score) was detected in a significant proportion of heterozygotes and the uncharacterized group than the homozygotes. All patients received colchicine therapy; 22.9% of them showed complete response, 74.3% showed incomplete response and 2.9% showed no response to therapy. The colchicine dose needed to control attacks was significantly lower in heterozygotes than the homozygotes(P=0.04). Also patients' response to colchicine therapy was significantly better in the heterozygous group(P=0.023). CONCLUSION: Fever, abdominal pain and arthritis are the most common presenting features for homozygous, Heterozygous and uncharacterized patients. E148Q, V726A, and M680I were the most common mutations detected in the heterozygous group. Homozygosity were found for M680I, M694V, and M694I mutations in 13 patients (65% of homozygotes). Heterozygotes presenting with severe phenotype should be further analyzed for less common second MEFV mutation using gene sequencing. The colchicine dose required to control the attacks was significantly lower and patients' response to colchicine therapy was significantly better in the heterozygous group than homozygous group.

Treatment Strategies for Childhood Steroid-Resistant Nephrotic Syndrome.

Background: Nephrotic syndrome (NS) is a common childhood kidney disease caused by impaired glomerular function, characterized by protein leakage from the blood to the urine through the glomeruli, resulting in proteinuria, hypoalbuminemia, hypercholesterolemia and generalized edema. NS is descriptively classified upon the patients’ response to steroid treatment as steroid-sensitive NS (SSNS) or steroidresistant NS (SRNS). Aim: describe and compare different management strategies for SRNS. Methods: This retrospective study included 53 SRNS who were attending the Nephrology Outpatient Clinic, Children's Hospital, and Cairo University for follow-up. Results: out of 53 SRNS patients, 29 (54.72%) patients showed complete response to immunosuppressive therapy, while 14 (25.42%) showed partial response and the remaining 10 (18.87%) showed no response. Conclusion: Partial response to steroids or to first line of immunosuppressive therapy predicts better response to further immunosuppressives in SRNS patient. Cyclophosphamide is a preferable line in MCNS as it gives good results (50% complete response) with the advantage of lower cost and shorter duration of use. In patients with non-minimal change lesions or those who failed to respond to cyclophosphamide, cyclosporine is used.