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: Brazilkree Zululkis
Country: Luxembourg
Language: English (Spanish)
Genre: Life
Published (Last): 28 March 2007
Pages: 129
PDF File Size: 20.45 Mb
ePub File Size: 12.48 Mb
ISBN: 568-8-72660-125-8
Downloads: 84408
Price: Free* [*Free Regsitration Required]
Uploader: Gugal

Retrieved from ” https: G Accad Med Torino in Italian. Its clinical hallmark, black urine on arising from sleep, is graphic testimony to intravascular hemolysis during the night. In 11 PNH patients of Japanese origin who had a poor response to treatment with eculizumabNishimura et al.

X-linked agammaglobulinemia Transient hypogammaglobulinemia of infancy. This antibody against terminal complement protein C5 reduced intravascular hemolysis, hemoglobinuria, and the need for transfusion, with an associated improvement in the quality of life.

This was confirmed in samples taken 8 weeks apart. N Engl J Med. Under this hypothesis, it is obvious that PNH cells, being invulnerable to this special kind of injury, would be at an advantage as long as the offending T cells or natural killer cells are present; whereas they would revert to being neutral or even at a disadvantage once such offending cells are no longer present.

Paroxysmal nocturnal hemoglobinuria, somatic.

Antilymphocyte globulin therapy for paroxysmal nocturnal hemoglobinuria

This deficiency on erythrocytes leads to intravascular paroxistifa, since certain GPI-anchored proteins i. Revista de Investigacion ClinicaVol. 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.


paroxiztica Link to citation list in Scopus. Policlinico [Med] in Italian. The authors concluded that in PNH patients, conditions exist that favor the occurrence of diverse somatic mutations in blood cells. Hematopoiesis, albeit of an abnormal clone, continues–an example of gene therapy in the wild. This is the main cause of severe complications and death in PNH.

There is disagreement as nocturnaa whether steroids such as prednisolone can decrease the severity of hemolytic crises. In patients with PNH, Hillmen et al. This destructive process occurs due to the presence of defective surface protein DAF on the red blood cellwhich normally function to inhibit such immune reactions.

Effect of eculizumab on hemolysis and transfusion requirements in patients with paroxysmal nocturnal hemoglobinuria. The median age was Information on the molecular defect was not provided.

PNH is classified by the context under which it is noctuurna AU – Gomez-Morales, E.


Chromosomal assignment of genes involved in glycosylphosphatidylinositol anchor biosynthesis: Some of these additional somatic mutations occurred before the PIGA mutations. The findings suggested that PNH involves stepwise clonal evolution derived from a singular stem cell clone, similar to that observed in hematopoietic malignancies. PNH is characterized by complement-mediated hemolysis and cloned expansion of affected cells of various hematopoietic lineages that are thought to be derived from an abnormal multipotential hematopoietic stem cell Rosse, D ICD – Deficient surface expression of glycosylphosphatidylinositol-anchored proteins in B cell lines established from patients with paroxysmal nocturnal hemoglobinuria.

Resistance nocgurna apoptosis caused by PIG-A gene mutations in paroxysmal nocturnal hemoglobinuria. AU – Morales-Polanco, M. Rare diseases Vascular-related cutaneous conditions Acquired hemolytic anemia. The gene hemoglobinuira codes for PIGA is located on the X chromosomewhich means that only one active copy of the gene for PIGA is present in each cell initially, females have two copies, but one is silenced through X-inactivation.


The dual pathogenesis of paroxysmal nocturnal hemoglobinuria.

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 hemoglobinuri established from patients with paroxysmal nocturnal hemoglobinuria.

Paroxysmal nocturnal hemoglobinuria

Specifically, it has been hypothesized that an autoimmune attack on normal stem cells targets a GPI-linked molecule and therefore preferentially spares the PNH stem cell, which thus has a growth or survival advantage or both in this abnormal environment. Paroxysmal nocturnal hemoglobinuria Hyperphosphatasia with mental retardation syndrome.

For instance, if the damage was caused by autoreactive T cells or by natural killer cells, as has been suggested to be the case in aplastic anemia, one could speculate that this happens by virtue of these cells triggering an apoptotic pathway by interacting with a GPI-linked molecule normally present on the surface of hematopoietic stem cells. All 4 patients remained transfusion-independent with no thrombotic episodes after mean follow-up of 30 months.

British Journal of Haematology.