کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3801531 1244734 2008 14 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Hemoglobinuria paroxística nocturna
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی پزشکی و دندانپزشکی (عمومی)
پیش نمایش صفحه اول مقاله
Hemoglobinuria paroxística nocturna
چکیده انگلیسی
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic disorder characterized by the existence of somatic mutations in the PIG-A (phosphatidylinositolglycan complementation class A) gene, which encodes for a protein involved in the biosynthesis of the glycosyl phosphatidylinositol (GPI) molecule that serves as an anchor for many cell surface proteins. This genetic alteration translates into a total or partial deficiency in the PNH clone of surface proteins attached to the cell by a GPI anchor. Evaluation of deficient expression of GPI-associated proteins is currently used for the diagnosis of paroxysmal nocturnal hemoglobinuria. Among other proteins, deficiency of CD55 and CD59 leads to an increased susceptibility of PNH cells to complement-mediated cell lysis. Variable degrees of cytopenia, an increased susceptibility to infections and recurrent thrombotic events are other symptoms of the disease. In this paper we review the recent advances in the knowledge about the pathogenic mechanisms of the disease and the current approaches for the diagnosis and monitoring of PNH patients.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Medicina Clínica - Volume 131, Issue 16, November 2008, Pages 617-630
نویسندگان
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