Paroxysmal nocturnal hemoglobinuria PNH is a rare acquired disorder of hematopoietic stem cells. The disease is diagnosed with haemolytic anemia, marrow failure or episodes of venous thrombosis. The diagnosis is based on flow cytometry, which allowed direct quantification of the GPI-AP-deficient cells. From earlier descriptions, the clinical polymorphism of PNH has been recognized by two presentations; one form, predominantly haemolytic without overt marrow failure, referred to classic PNH and the other one, with marrow failure, was often described as the aplastic anemia PNH syndrome AA-PNH.
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We'd like to understand how you use our websites in order to improve them. Register your interest. Paroxysmal nocturnal hemoglobinuria PNH is a disease linked to a somatic mutation which is accompanied by expansion of cell clones deficient in molecules needed to make cell membrane anchors for proteins.
These mutations can be found in diverse forms, resulting in differing diagnostic and therapeutic implications. Flow cytometry is the recommended technology for confirming diagnosis and monitoring patients.
However, the technological approach differs according to whether the aim is to diagnose classic PNH Marchiafava-Micheli syndrome or identify one of the sub-populations that can occur in cases of bone marrow failure, where the disease affects PNH cells. This is a preview of subscription content, log in to check access.
Paroxysmal noctural haemoglobinuria; clinical manifestatons, haematology, and nature of the disease. Diagnosis and management of paroxysmal nocturnal hemoglobinuria.
Clinicla significance of a minor population of paroxysmal nocturnal hemoglobinuria-type cells in bone marrow failure syndrome. Diagnosis of paroxysmal nocturnal haemoglobinuria using immunophenotyping of preripheral blood cells. Application of flow cytometry to the diagnosis of paroxysmal nocturnal hemoglobinuria.
The use of monoclonal antibodies and flow cytometry in the diagnosis of paroxysmal nocturnal hemoglobinuria. Inherited complete deficiency of 20 kilodalton homologous restriction factor CD59 as a cause of paroxysmal nocturnal hemoglobinuria.
N Engl J Med. Clinical significance of increased PNH-type cells in the peripheral blood of patients with aplastic anemia and refractory anemia. In: Omine M, Kinoshita D, eds. Tokyo:Springer; — Google Scholar. Glycosylphosphatidylinositol anchors of membrane glycoproteins are binding determinants for the channel-forming toxin aerolysin.
J Biol Chem. Multilineage glycosilphosphatidylinositol anchor-deficient haematopoiesis in untreated aplastic anaemia. J Haematol. Download references. Correspondence to V. Reprints and Permissions. Genty, V. Bio trib.
Download citation. Issue Date : May Search SpringerLink Search. Abstract Paroxysmal nocturnal hemoglobinuria PNH is a disease linked to a somatic mutation which is accompanied by expansion of cell clones deficient in molecules needed to make cell membrane anchors for proteins. Dine Authors V. Genty View author publications. You can also search for this author in PubMed Google Scholar. View author publications. Rights and permissions Reprints and Permissions.
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Publications Aplasie médullaire/Hémoglobinurie paroxystique nocturne/Anémie de Fanconi
Hematopoietic stem cell transplantation for patients with paroxysmal nocturnal hemoglobinuria previously treated with eculizumab: a retrospective study of 21 patients from SFGM-TC centers. The effect of age in patients with acquired aplastic anaemia treated with immunosuppressive therapy: comparison of Adolescents and Young Adults with children and older adults. Nationwide survey in France on the use of romiplostim in patients with refractory severe aplastic anemia. Aplastic anemia in the elderly: a nationwide survey on behalf of the French Reference Center for Aplastic Anemia.
Surveillance et diagnostic de l’hémoglobinurie paroxystique nocturne en cytométrie de flux
Paroxysmal nocturnal hemoglobinuria PNH is a rare acquired disorder of hematopoietic stem cells. The disease is diagnosed with hemolytic anemia, marrow failure and thrombosis. The two most common sites are hepatic and cerebral veins. These locations are correlated with high risk of death. Currently, these data are balanced with the use of a monoclonal antibody Eculizumab , which has significantly improved the prognosis with a survival similar to general population after 36 months of follow-up. Anticoagulant treatment is recommended after a thromboembolic event but has no place in primary prophylaxis.