Đột biến gene CR1 ở trẻ mắc bệnh cầu thận C3: Báo cáo ca bệnh

C3 glomerulopathy (C3 glomerulopathy) is a rare complement-mediated glomerulopathy disease, difficult to treat, has a high risk of end-stage kidney disease and a high relapse rate after transplantation. The mechanism of the disease is due to dysregulation of the alternative pathway of complement, which may be caused by mutations in components that regulate this pathway. We report a case of a 13-year-old female child presenting to the hospital with endstage renal failure. Clinical manifestations of edema, hypertension and laboratory findings showed a severe decrease in glomerular filtration rate (GFR), continuous decrease in C3, normal C4, and on renal biopsy showed C3 deposition with Ig and C1q (immunofluorescence) should initially be diagnosed and treated in the direction of systemic lupus erythematosus. However, because there was no match between clinical and laboratory tests, the patient was further tested for genes and found to have CR1 gene mutations. Combining clinical, serological, pathology and genetic testing, we diagnosed end-stage chronic renal failure on the background of C3 glomerular disease. Children treated with corticosteroids at a dose of 1mg/kg/day along with renal replacement therapy, after 6 weeks of treatment, the patient improved in both clinical and laboratory parameters but C3 was still low.