tailieunhanh - Mô tả trường hợp tang sinh tế bào Lympho liên quan nhiễm sắc thể X Type 1 tại Bệnh viện Nhi đồng I

Bệnh tăng sinh tế bào lympho liên quan nhiễm sắc thể X type 1 (XLP1) là bệnh di truyền hiếm gặp do đột biến gen SH2D1A/SAP. Biểu hiện có thể là hội chứng thực bào máu (HCTBM), u lympho, thiếu hụt gammaglobullin, thường khởi phát sau nhiễm EBV. Bài viết tiến hành mô tả triệu chứng lâm sàng, cận lâm sàng và điều trị bệnh nhân nam 2 tuổi mang đột biến gen SH2D1A gây bệnh XLP1. | Journal of Pediatric Research and Practice Vol. 4 No. 6 2020 68-74 Case Report A Case Report of X- Linked Lymphoproliferative Disease Type 1 at Children s Hospital Cao Tran Thu Cuc Nguyen Minh Tuan Phan Nguyen Lien Anh Children s Hospital No1 341 Su Van Hanh Ho Chi Minh City Vietnam Received 11 August 2020 Revised 22 August 2020 Accepted 28 August 2020 Abstract Background X-linked lymphoproliferative disease type 1 XLP1 due to mutations in SH2D1A Xq25 encoding signaling lymphocyte activation molecule associated protein SAP is a rare disorder which is characterized by severe dysregulation of the immune system. Features include hemophagocytic lymphohistiocytosis HLH lymphos and dysgammaglobulinemias often but not always relate to Epstein-Barr virus EBV infection. Method A case report with the clinical manifestations laboratory features and treatment of the 2 year old patient with XLP1 at Children s Hospital CH1 . Results The age of onset in a boy was 12 month with symptoms of prolonged fever lasting 2 weeks hepatosplenomegaly prolonged leucocytosis 25 35 x 10 9 L mainly lymphocytosis 15 20 x 10 9 L mild anemia and thrombocytopenia increased but not high ferritin bone marrow existing phagocytosis phenomenon high concentration of EBV in blood copies ml normal antibody concentration. Family history had a 2 year old brother who died because of HLH associated with EBV infection at CH1. At that time he was diagnosed HLH EBV infection and was treated with immunoglobulin infusion IVIG dexamethasone for 8 weeks. After 2 months of discontination of treatment he had meningitis for 8 weeks treated with antibiotics of Meropenem Vancomycin. The important point was abnormal laboratory of severe decreased antibody concentrations IgG 100 200 mg dL IgA 5 15 mg dL IgM 7 20 mg dL flow cytometry in normal range. Over the next 12 months the child was received IVIG every month. His whole exome sequencing showed mutation SH2D1A on X chormosome nonsynonymous .