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Background: There is lack of consensus on the necessity of renal biopsy in children with steroid-dependent nephrotic syndrome (SDNS) prior to cytotoxic therapy., Objectives: To retrospectively evaluate: (a) the benefit of renal biopsy (RB) prior to cyclophosphamide therapy; (b) relationship between histopathologic results of RB samples and clinical course in children with SDNS., Patients, Materials and Methods: RB was performed in 18 SDNS patients (11 boys and 7 girls). The mean age of the children at the time of nephrotic syndrome (NS) diagnosis was 6.4 +/- 3.9 years and 9.7 +/- 4.3 years at the time of RB. Following the RB, all children received prednisone and cyclophosphamide treatment for 12 weeks. Duration of remission and relapse rate was recorded., Results: The histologic evaluation revealed minimal change disease (MCD; n = 14) and IgM nephropathy (n = 4). These results didn't affect the ongoing therapy. MCD patients had longer remission compared to IgM nephropathy (3.2 +/- 1.5 vs 1.7 +/- 0.8 years; p = 0.05). Relapse rate did not differ significantly between MCD and IgM nephropathy (p = 0.22). The duration of remission was inversely correlated to relapse rate after the treatment (r = -0.66, p = 0.01)., Conclusion: We suggest that RB prior to cyclophosphamide therapy is not necessary in patients with SDNS (Tab. 2, Ref. 14). Full Text (Free, PDF) www.bmj.sk.

Background: An intracardiac thrombus is extremely rare in children with the nephrotic syndrome (NS)., Objectives: To present a case report of a child with steroid resistant NS and intracardiac thrombus., Methods and Results: A 3.5-year-old boy with the first attack of steroid resistant NS was admitted to the hospital. A histological evaluation of the renal biopsy specimen revealed the minimal changes disease (MCD). There were no mutations in the podocin gene. The treatment with furosemide, albumin, prednisone, metylprednisolone, cyclophosphamide, enalapril and losartan was ineffective, as the intermittent oedema, proteinuria, hypoalbuminemia and hypercholesterolemia were still present. 8 weeks after the disease onset, the sinus tachycardia occurred and the echocardiography revealed a thrombus in the right ventricle, which had gradually proceeded to the pulmonary artery bifurcation. The thrombolysis with 40 mg of alteplase was initiated. Two hours after the alteplase application, the thrombus was not detectable. The mutational analysis of factors V, II and MFTHR genes were negative. The repeated echocardiography performed after 1 week, 2 and 6 months, respectively, revealed a normal cardiac function and morphology. The patient received prophylactic doses of fraxiparin for 3.5 months followed by warfarin. A remission of the nephrotic syndrome was achieved with high doses of cyclosporine A together with atorvastatin at 7 month after the disease onset., Conclusion: The thromboembolism as a result of the hypercoagulation status is a serious complication of the nephrotic syndrome. The intracardiac localisation of thrombus is extremely rare (Fig. 2, Ref. 10). Full Text (Free, PDF) www.bmj.sk.

Abstract Autoimmunity is often observed among individuals with primary immune deficiencies; however, the frequency and role of autoimmunity in Schimke immuno-osseous dysplasia (SIOD) has not been fully assessed. SIOD, which is caused by mutations of SMARCAL1, is a rare autosomal recessive disease with its prominent features being skeletal dysplasia, T cell deficiency, and renal failure. We present a child with severe SIOD who developed rituximab resistant Evans syndrome (ES). Consistent with observations in several other immunodeficiency disorders, a review of SIOD patients showed that approximately a fifth of SIOD patients have some features of autoimmune disease. To our best knowledge this case represents the first patient with SIOD and rituximab resistant ES and the first study of autoimmune disease in SIOD.