Paroxysmal nocturnal hemoglobinuria (PNH) is a hematological disorder due to a defect in the glycosylphosphatidylinositol (GPI) anchor which is caused by somatic mutations of the PIGA gene. Nocturnal hemoglobinuria is the first symptom, but other hematological abnormalities up to a myelodysplastic syndrome might ensue.
Eculizumab seems to be a new quite effective medicament.
|Hereditary diseases of the hematopoetic system and coagulopathies|
|Autoimmune lymphoproliferative syndrome 5|
|Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome|
|Disorders of cobalamin metabolism|
|Familial erythrocytosis 2|
|Familial hemophagocytic lymphohistiocytosis|
|Hereditary bleeding disorders|
|Hereditary malign blood disorders|
|Inheritable platelet disorders|
|Paroxysmal nocturnal hemoglobinuria|
|Retinitis pigmentosa and erythrocytic microcytosis|
|Vasculitis due to ADA2 deficiency|
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Socié G et al. (1996) Paroxysmal nocturnal haemoglobinuria: long-term follow-up and prognostic factors. French Society of Haematology.
None (1996) Epidemiology of PNH.
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Bessler M et al. (1994) Somatic mutations and cellular selection in paroxysmal nocturnal haemoglobinuria.
Hillmen P et al. (1995) Natural history of paroxysmal nocturnal hemoglobinuria.
None (1989) Paroxysmal nocturnal hemoglobinuria: the biochemical defects and the clinical syndrome.
van den Heuvel-Eibrink MM et al. (2005) Childhood paroxysmal nocturnal haemoglobinuria (PNH), a report of 11 cases in the Netherlands.
Hillmen P et al. (2004) Effect of eculizumab on hemolysis and transfusion requirements in patients with paroxysmal nocturnal hemoglobinuria.
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Mahoney JF et al. (1992) Defective glycosylphosphatidylinositol anchor synthesis in paroxysmal nocturnal hemoglobinuria granulocytes.
Fujimi A et al. (2002) A patient with paroxysmal nocturnal haemoglobinuria in whom granulocyte colony-stimulating factor administration resulted in improvement of recurrent enterocolitis and its associated haemolytic attacks.
Horikawa K et al. (2002) Frequent detection of T cells with mutations of the hypoxanthine-guanine phosphoribosyl transferase gene in patients with paroxysmal nocturnal hemoglobinuria.
Nishimura J et al. (1999) Paroxysmal nocturnal hemoglobinuria: An acquired genetic disease.
Brodsky RA et al. (1997) Resistance to apoptosis caused by PIG-A gene mutations in paroxysmal nocturnal hemoglobinuria.
Luzzatto L et al. (1997) Somatic mutations in paroxysmal nocturnal hemoglobinuria: a blessing in disguise?
Savoia A et al. (1996) Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients.
Nagarajan S et al. (1995) Genetic defects underlying paroxysmal nocturnal hemoglobinuria that arises out of aplastic anemia.
Takeda J et al. (1993) Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria.
Takahashi M et al. (1993) Deficient biosynthesis of N-acetylglucosaminyl-phosphatidylinositol, the first intermediate of glycosyl phosphatidylinositol anchor biosynthesis, in cell lines established from patients with paroxysmal nocturnal hemoglobinuria.
Bessler M et al. (1994) Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene.
Ware RE et al. (1994) Chromosomal assignment of genes involved in glycosylphosphatidylinositol anchor biosynthesis: implications for the pathogenesis of paroxysmal nocturnal hemoglobinuria.
None (2008) Advances in the diagnosis and therapy of paroxysmal nocturnal hemoglobinuria.
Hu R et al. (2005) PIG-A mutations in normal hematopoiesis.
Araten DJ et al. (1999) Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phenotype are present in normal individuals.
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Wikipedia articleWikipedia EN (Paroxysmal_nocturnal_hemoglobinuria)