Genetic and environmental effects in paroxysmal nocturnal hemoglobinuria: this little PIG-A goes "Why? Why? Why?".
نویسندگان
چکیده
منابع مشابه
Resistance to apoptosis caused by PIG-A gene mutations in paroxysmal nocturnal hemoglobinuria.
Paroxysmal nocturnal hemoglobinuria (PNH) is a clonal hematopoietic stem cell disorder resulting from mutations in an X-linked gene, PIG-A, that encodes an enzyme required for the first step in the biosynthesis of glycosylphosphatidylinositol (GPI) anchors. PIG-A mutations result in absent or decreased cell surface expression of all GPI-anchored proteins. Although many of the clinical manifesta...
متن کاملParoxysmal Nocturnal Hemoglobinuria (PNH) — Symptoms and Diagnosis
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired defect in the myeloid stem cell lineage and can be seen as a rare, chronic, morbid disorder. Formally known as Marchiafava-Micheli syndrome, it received its current name as a descriptive term for the disease. Individuals afflicted with the disease wake up to dark, “cola” colored urine due to RBC breakdown and release of hemoglobin in the ...
متن کاملParoxysmal Nocturnal Hemoglobinuria (PNH) — Symptoms and Diagnosis
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired defect in the myeloid stem cell lineage and can be seen as a rare, chronic, morbid disorder. Formally known as Marchiafava-Micheli syndrome, it received its current name as a descriptive term for the disease. Individuals afflicted with the disease wake up to dark, “cola” colored urine due to RBC breakdown and release of hemoglobin in the ...
متن کاملIntestinal perforation in a patient with paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare hematologic disorder that manifests with hemolytic anemia, thrombosis, and peripheral blood cytopenias.Acute abdominal pain is one of the PNH clinical manifestations due to venous thrombosis of intra-abdominal sites including hepatic, portal, mesenteric, and splenic veins.Eculizumaband allogeneic bone marrow transplantation (BMT) arethe only w...
متن کاملParoxysmal Nocturnal Hemoglobinuria (PNH) — Symptoms and Diagnosis
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired defect in the myeloid stem cell lineage and can be seen as a rare, chronic, morbid disorder. Formally known as Marchiafava-Micheli syndrome, it received its current name as a descriptive term for the disease. Individuals afflicted with the disease wake up to dark, “cola” colored urine due to RBC breakdown and release of hemoglobin in the ...
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ورودعنوان ژورنال:
- The Journal of clinical investigation
دوره 106 5 شماره
صفحات -
تاریخ انتشار 2000