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).

Author: Nilar Kazigal
Country: Trinidad & Tobago
Language: English (Spanish)
Genre: Sex
Published (Last): 5 March 2011
Pages: 306
PDF File Size: 17.16 Mb
ePub File Size: 6.38 Mb
ISBN: 506-9-40482-214-8
Downloads: 63522
Price: Free* [*Free Regsitration Required]
Uploader: Gugrel

Historically, the role of the sleep and hemoglobinurja in this disease the “nocturnal” component of the name has been attributed to acidification of the blood at night due to relative hypoventilation and accumulation of carbon dioxide in the blood during sleep. All 4 clones had an entirely separate mutational basis. Hemoglobinurka gene that codes for PIGA is located on the X chromosomewhich means that only one hmoglobinuria copy of the gene for PIGA is present in each cell initially, females have two copies, but one is silenced through X-inactivation.

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 more unusual sites: Venous thrombosis, an increased incidence of leukemia arising from the affected cells, nocturnaa a tendency for association with aplastic anemia see are other features of the disease.

Comparison of the historical data with pregancies treated with eculizumab documented improved maternal and fetal outcome. The Cochrane Database of Systematic Reviews.

Antilymphocyte globulin therapy for paroxysmal nocturnal hemoglobinuria

Unfortunately, it is not free to produce. Using flow cytometric analysis of granulocytes, Araten et al.


Defective glycosylphosphatidylinositol anchor synthesis hemoglobinudia paroxysmal nocturnal hemoglobinuria granulocytes. Some of these additional somatic mutations occurred before the PIGA mutations. Other key features of the disease, such as the high incidence of blood clot formationare incompletely understood. Deficient biosynthesis of N-acetylglucosaminyl-phosphatidylinositol, the first intermediate of glycosyl phosphatidylinositol anchor biosynthesis, in cell lines established from patients with paroxysmal nocturnal hemoglobinuria.

AU – Gomez-Morales, E.

Hematopoiesis, albeit of an abnormal clone, continues–an example of gene therapy in the wild. Requirements for transfusion of red cells increased during pregnancy from a mean of 0. Paroxysmal nocturnal hemoglobinuria, somatic. The findings suggested that PNH involves stepwise clonal evolution derived from a singular stem cell clone, similar to that observed in hematopoietic malignancies. 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.

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.

Two patients suffered anaphylaxis after the first administration of ALG and were withdrawn from the study. Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phenotype are present in normal individuals.

Blood tests in PNH show changes consistent with intravascular hemolytic anemia: In a note added in proof, Araten et al. Megaloblastic anemia Pernicious anemia. Affected cell lines established from 5 other patients with PNH were shown to belong to complementation group class A, indicating that the target gene is the same in most, if not all, patients with PNH.

Rare diseases Vascular-related cutaneous conditions Acquired hemolytic anemia. Inborn error of lipid metabolism: Childhood paroxysmal nocturnal haemoglobinuria PNHa report of 11 cases in the Netherlands. In vitro hemolysis due to nonmutant and mutant C5 was completely blocked with the use of N, a monoclonal antibody that binds to a different site on C5 than does eculizumab. Clinical and Translational Science.


Paroxysmal nocturnal hemoglobinuria – Wikipedia

Klin Wochenschr in German. N Engl J Med. Retrieved from ” https: All 4 patients remained transfusion-independent with no thrombotic episodes nodturna mean follow-up of 30 months. Access to Document Link to publication in Parozistica. Allogeneic bone marrow transplantation is the only cure, but has significant rates of additional medical problems and death. A small proportion of patients report attacks of abdominal paindifficulty swallowing and pain during swallowingas well as erectile dysfunction in men; this occurs mainly when the breakdown of red blood cells is rapid, and is attributable hemkglobinuria spasm of smooth muscle due to depletion of nitric oxide by red cell breakdown products.

The responses were transient, and no response was seen in the follow-up of months. Specifically, it has been hypothesized that an autoimmune attack on normal stem cells targets a GPI-linked molecule and therefore preferentially spares the PNH paroxistjca cell, which thus has a growth or survival advantage or both in this abnormal environment. PNH is a chronic condition. To solicit data on pregnancies with PNH, Kelly et al.