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December 27, 2016 00:07

Paroxysmal nocturnal hemoglobinuria ( Marchiafava - Micheli disease)

Paroxysmal nocturnal hemoglobinuria (Marchiafava-Micheli disease) - a rare form of acquired hemolytic anemia, occurring with a frequency of 1:50 000 in the population.

In paroxysmal nocturnal hemoglobinuria clone of hematopoietic cells lose the ability to synthesize glikanfosfatidilinozitol required for binding complement regulators to the erythrocyte membrane, which makes the red blood cells are extremely susceptible to lysis by complement.Paroksnzmalnaya nocturnal hemoglobinuria is characterized by episodes of intravascular hemolysis and hemoglobinuria with the advent gemosiderinurii.Often there are venous thrombosis, especially mesenteric, portal, cerebral and deep vein thrombosis, which is the cause of platelet aggregation caused by uncontrolled complement activation.Transformation of the disease aplastic anemia, myelodysplastic syndrome, acute myelogenous leukemia.

Laboratory revealed normocytic anemia, normochromic (in the early stages of the disease) or hypochromic (as the disease progresses)

giperregeneratornaya morphologically marked anizopoykilotsitoz, polihromaziya, may cause normocytes.There thrombocytopenia (usually mild) and leykogranulotsitopeniya (can be severe).Serum iron significantly reduced.Alkaline phosphatase activity in leukocytes low.Diagnose the disease on the basis of confirmation of abnormal red blood cell lysis in the presence of complement, activated with acidified serum (Ham test) or in hypotonic lysis medium in the presence of sucrose.Currently, a method of flow cytometry allows to determine the absence of erythrocyte membrane decay accelerating factor and inhibitor of reactive lysis.These two proteins are regulators of complement functions and are connected to the cell membrane via phosphatidylinositol-glycan.Treatment is symptomatic.Held replacement blood transfusion therapy to suppress the proliferation of abnormal clones.Sometimes effective use of corticosteroids.With the transformation of paroksnzmalnoy nocturnal hemoglobinuria in the development of aplastic anemia or severe thrombotic complications it is advisable to conduct a bone marrow transplant.