Báo cáo 2 ca bệnh vô gammaglobulin huyết liên quan với nhiễm sắc thể x ở trẻ em

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Tác giả: Thị Minh Hương Lê, Thị Vân Anh Nguyễn, Ngọc Dương Trương

Ngôn ngữ: vie

Ký hiệu phân loại: 811.00809282 American poetry in English

Thông tin xuất bản: Y Dược lâm sàng 108, 2013

Mô tả vật lý: 65-69

Bộ sưu tập: Metadata

ID: 556420

Objectives: To describe the clinical features, laboratory findings and treatment outcomes of 2 cases with a rare disease which were diagnosed and treated for the first time in National Hospital of Pediatrics. Method: Retrospective. Results: 2 boys with recurrent infections from the first 1-2 years of life. The clinical situation was characterized by recurrent infections (otitis, pneumonia, septicemia.. .), poor progress, persistent, unresponsive to conventional therapies, severe complications and 1 death. Investigations: reducing the number of B cell (CD19 2 percent ), reducing the immunoglobulin level (lgG, IgM, IgA) or A, Frameshift in Bruton gene- chromosome X. Definitive diagnosis: agammaglobulinemia. Treatment: IVIG combined with prophylactic antibiotics. Conclusion: Bruton's disease is a humoral immunodeficiency disease caused by mutations in the gene coding for Bruton Tyrosin Kinase in the chromosome X, which was characterized by recurrent infections, unresponsive to conventional therapies, severe complications threatened to life.
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