The GGAGAA combined genotype and the GGA haplotype of IL-17A rs2275913, IL-17F rs763780 and rs2397084 can be considered risk factors for the development of SLE in Egyptian children. IL-17A rs2275913, IL-17F rs763780 and rs2397084 are not related to the LN development, SLE disease activity or overall survival.

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Background Increased expression of interferon-inducible genes is implicated in the pathogenesis of systemic lupus erythematosus (SLE). Interferon regulatory factor 5 (IRF5) is one of the transcription factors regulating interferon and was proved to be implicated in the pathogenesis of SLE in different populations. Objectives The objective of this study was to investigate the correlation between polymorphisms of the IRF5 gene and SLE susceptibility in a cohort of Egyptian children and to investigate their association with clinico-pathological features, especially lupus nephritis. Subjects and methods Typing of interferon regulatory factor 5 rs10954213, rs2004640 and rs2280714 polymorphisms were done using polymerase chain reaction-restriction fragment length polymorphism for 100 children with SLE and 100 matched healthy controls. Results Children with SLE had more frequent T allele and TT genotype of rs2004640 ( P = 0.003 and 0.024, respectively) compared to controls. Patients with nephritis had more frequent T allele of rs2004640 compared to controls ( P = 0.003). However the allele and genotype frequencies of the three studied polymorphisms did not show any difference in patients with nephritis in comparison to those without nephritis. Haplotype GTA of rs10954213, rs2004640 and rs2280714, respectively, was more frequent in lupus patients in comparison to controls ( p = 0.01) while the haplotype GGG was more frequent in controls than lupus patients ( p = 0.011). Conclusion The rs2004640 T allele and TT genotype and GTA haplotype of rs rs10954213, rs2004640, and rs2280714, respectively, can be considered as risk factors for the development of SLE. The presence of the rs2004640 T allele increases the risk of nephritis development in Egyptian children with SLE.

We retrospectively evaluated the clinical features, histo-pathological patterns, treatment modalities, and outcome of children and adolescents with lupus nephritis (LN), followed-up in Lupus Clinic, Pediatric Nephrology Unit, Mansoura University Children's Hospital between January 1997 and December 2012. Out of 194 patients diagnosed with systemic lupus erythematosus (SLE), LN was reported in 136 (70 %) patient, they were 27 males (20 %) and 109 females (80 %). The mean age at presentation was 12.5 ± 2.9 years, the mean duration of follow up was 4.1 years (range 2 months-12 years). Hematuria was present in 79 patients (58 %), proteinuria in 126 (92.6 %), 38 of them were in nephrotic range, while renal impairment was documented in 20 patients (15 %). Renal biopsy was done in 132 patients; diagnosis of class II, III, IV, V were 23, 25, 39, and 2 % respectively. Second renal biopsy was indicated in 58 patients (insufficient first biopsy 2, follow up in 45, lupus flare in 8, no response to therapy in 3 patients), while the third one was needed in only eight patients. Steroids were the commonest initial medications; used in 128 patients (63 alone and 65 with others) and cyclophosphamide was used in 64 patients. At the last follow-up visit; 19 % of patients lost follow-up, 45 % had complete remission, 21 % still had active disease, 1 % had end-stage renal disease, and 11 % died. In conclusion, in Egypt, childhood SLE is associated with frequent and severe nephritis at presentation, and this may be attributed to genetic, ethnic, or environmental factors.

This is the first large study on the pathological pattern of PNS in children from Egypt, and it shows that MCD is the most frequent underlying pathology and steroid resistance is the most frequent indication for biopsy.