Download Citation on ResearchGate | Hemoglobinuria paroxística nocturna | Paroxysmal nocturnal hemoglobinuria is a rare acquired chronic hemolytic anemia. La hemoglobinuria paroxística nocturna (HPN) es una enfermedad clonal de las células progenitoras hematopoyéticas originada por la mutación adquirida del. TRATAMIENTO DE LA HEMOGLOBINURIA PAROXISTICA NOCTURNA CON GLOBULINA ANTILINFOCITARIA. Revista de Investigacion Clinica, 45(5).
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Episodes of thrombosis are treated as they would in other patients, but, given that PNH is a persisting underlying cause, it is likely that treatment with warfarin or similar drugs needs to be continued long-term after an episode of thrombosis.
Genetic defects underlying paroxysmal nocturnal hemoglobinuria that arises out of aplastic anemia. Using flow cytometric analysis of granulocytes, Araten et al.
The remainder mainly experience the symptoms of anemia, such as tiredness, shortness of breathand palpitations. They demonstrated a somatic point mutation in 4 cases which, with ncturna 2 mutations reported by Takeda et al. These may develop in common sites deep vein thrombosis of the leg and resultant pulmonary embolism when these clots break off and enter the lungsbut in PNH blood clots may also form in hemoglobiburia unusual sites: Paroxysmal nocturnal hemoglobinuria, somatic.
The Dutch physician Enneking coined the term “paroxysmal nocturnal hemoglobinuria” or haemoglobinuria paroxysmalis nocturna in Latin inwhich has since become the default description. No PNH-affected cells were found among the erythrocytes or neutrophils of the patients in prolonged remission, but a few PNH-affected lymphocytes were detectable in 3 of the 4 patients tested.
Access to Document Link to publication in Scopus. Retrieved 3 July This hypothesis has been questioned by researchers who note that not all those with PNH have increased hemolysis during sleep, so it is uncertain how important a role sleep actually plays in this disease.
Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria Paoxistica is an uncommon acquired hemolytic anemia that often manifests with hemoglobinuria, abdominal pain, smooth muscle dystonias, fatigue, and thrombosis. Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phenotype are present in normal individuals.
Information on the molecular defect was not provided. N Engl J Med. Retrieved June 6, Please consider making a donation now and again in the future.
From Wikipedia, the free encyclopedia. Paroxysmal nocturnal hemoglobinuria is rare in children. The patients had been treated with supportive measures, such as oral anticoagulant therapy after established thromboses and transfusions. The affected clone endows all its descendants–red cells, leukocytes including lymphocytesand platelets–with the altered gene.
Although many of the clinical manifestations e. Inthe drug eculizumab was approved for the treatment of PNH. Requirements for transfusion of red cells increased during pregnancy from a mean of 0. Revista de Investigacion Clinica45 5 The criterion for severity was the existence of continuous hemolysis in all and transfusion requirements of two or more packed red cells per month in four cases. A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships.
Paroxysmal nocturnal hemoglobinuria – Wikipedia
The disease results from the expansion of hematopoietic stem cells harboring a mutation in the PIGA gene, which encodes a protein required for the biosynthesis of glycosylphosphatidylinositol GPIa lipid moiety that attaches dozens of proteins to the cell surface.
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All cells have proteins attached to their membranes, often serving as a mode of communication or signaling between the cell and the surrounding environment. This phenomenon mainly occurs in those who have the primary form of PNH, who will notice this at some point in their disease course. There are several groups where screening for PNH should be undertaken. Iron-deficiency anemia Plummer—Vinson syndrome Macro-: Expert curators review the literature and organize it to facilitate your work.
Platelet transfusions were given in 16 pregnancies.
Rosse indicated that all cases of PNH appear to have a defect in the PIGA gene, but the causative mutation has in all instances been unique. For the disorder to be caused by mutation in 1 of the autosomal genes, the hematopoietic cell would need to acquire clonal mutation of both alleles.
Administration of granulocyte colony-simulating factor resulted in an increased T-cell count, normalization of T-cell function, increased blood levels of helper T cells Th1 and Th2 cytokines, and improvement in the enterocolitis attacks.