Paroxysmal nocturnal hemoglobinuria.
نویسنده
چکیده
Keywords Disease name and synonym Definition and Differential Diagnosis Etiology Clinical Description Diagnostic Methods Epidemiology Management References Abstract Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal disorder of the bone marrow characterized by the lack (total or partial) of all proteins normally attached to the cell membrane by the glycosylphosphatidylinositol (GPI) anchor. This cellular defect arises in a hematopoietic stem cell and is due to a somatic mutation of the PIG-A gene, encoding a protein needed for the biosynthesis of the anchor GPI. The variable clinical manifestations are intravascular hemolytic anemia, venous thrombosis (particularly within the abdomen), and cytopenia due to deficient bone marrow production of blood cells. The diagnosis is definitively established by demonstrating the deficiency of GPI-anchored proteins on blood cells, using monoclonal antibodies and flow cytometry. The genesis of the mutation is usually unknown; the disorder often arises in the setting of aplastic anemia. PNH is a rare disorder with a minimum prevalence estimated to 1-1.5 cases per million. Treatment is primarily symptomatic (transfusion, erythropoietin, glucocorticoids, anticoagulation) or includes, in severe cases, bone marrow transplantation. Techniques for the suppression of complement activation with monoclonal antibodies are currently under development and appear to be very promising.
منابع مشابه
Intestinal 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 کاملگزارش یک مورد بیمار مبتلا به Paroxysmal Nocturnal Hemoglobinuria طی حاملگی
سابقه و هدف: PNH فرم نادری از آنمی همولیتیک غیر ارثی است که با همولیز حاد و مزمن داخل عروقی و هموگلوبینوری مکرر مشخص می شود و اغلب منجر به سقط و عوارض عروقی از قبیل ترمبوزهای وریدی می گردد اما برخی موارد حاملگی موفق و بدون عارضه نزد بیماران PNH مشاهده می گردد. در این راستا اقدام به معرفی یک مورد بیمار حامله مبتلا به PNH مراجعه کننده به بیمارستان رسول اکرم تهران در زمستان سال گذشته می شود. گزارش...
متن کاملAn unusual cause of cerebral venous sinus thrombosis. Paroxysmal nocturnal hemoglobinuria.
Cerebral venous sinus thrombosis caused by paroxysmal nocturnal hemoglobinuria is uncommon. Our case is a 44-year-old woman who presented with a 2 day history of headaches, nausea, and seizures followed by a Todd`s paresis; she had been diagnosed as paroxysmal nocturnal hemoglobinuria for 4 years. A magnetic resonance venography revealed extensive thrombosis of the cerebral venous sinus. She re...
متن کاملBaseline characteristics and disease burden in patients in the International Paroxysmal Nocturnal Hemoglobinuria Registry.
Paroxysmal nocturnal hemoglobinuria is a rare, acquired disease associated with hemolytic anemia, bone marrow failure, thrombosis, and, frequently, poor quality of life. The International PNH Registry is a worldwide, observational, non-interventional study collecting safety, effectiveness, and quality-of-life data from patients with a confirmed paroxysmal nocturnal hemoglobinuria diagnosis or d...
متن کاملIschemic Stroke Presenting as the First Symptom in a Setting of Paroxysmal Nocturnal Hemoglobinuria
Paroxysmal nocturnal hemoglobinuria is a hematological disorder characterized by hemolytic anemia, cytopenia, and thrombotic events. Venous thrombotic events are more commonly reported. An arterial thrombosis is a rare event in paroxysmal nocturnal hemoglobinuria. We present a case of a 32-year-old female who had symptoms of stroke and on workup, she was diagnosed as a case of paroxysmal noctur...
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ورودعنوان ژورنال:
- Current topics in microbiology and immunology
دوره 178 شماره
صفحات -
تاریخ انتشار 1992