Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Paroxysmale nächtliche Hämoglobinurie

Die paroxysmale nächtliche Hämoglobinurie ist eine Bluterkrankung, die auf einem defekten Glycosylphosphatidylinositol (GPI) Anker beruht. Ursache sind somatische Mutationen des PIGA-Gens. Die nächtliche Hämoglobinurie ist zwar ein erstes auffälliges Symptom aber das breite Spektrum hematologischer Erkrankungen reicht bis zum Myelodysplastischen Syndrom.

Management

Das Eculizumab ist ein neues recht effektives Medikament zur Behandlung.

Gliederung

Erbliche Blutkrankheiten und Gerinnungsstörungen
Erbliche Blutungsübel
Familiäre Erythrozytose 2
Hereditäre Thrombozytenerkrankungen
Ovalozytose
Paroxysmale nächtliche Hämoglobinurie
PIGA
Störungen des Cobalaminstoffwechsels
Venöse thromboembolische Erkrankungen

Referenzen:

1.

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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2.

Ueda E et al. (1992) Deficient surface expression of glycosylphosphatidylinositol-anchored proteins in B cell lines established from patients with paroxysmal nocturnal hemoglobinuria.

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3.

Hu R et al. (2005) PIG-A mutations in normal hematopoiesis.

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4.

Brodsky RA et al. (2008) Advances in the diagnosis and therapy of paroxysmal nocturnal hemoglobinuria.

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5.

Ware RE et al. (1994) Chromosomal assignment of genes involved in glycosylphosphatidylinositol anchor biosynthesis: implications for the pathogenesis of paroxysmal nocturnal hemoglobinuria.

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6.

Bessler M et al. (1994) Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene.

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7.

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.

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8.

Takeda J et al. (1993) Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria.

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9.

Nagarajan S et al. (1995) Genetic defects underlying paroxysmal nocturnal hemoglobinuria that arises out of aplastic anemia.

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10.

Savoia A et al. (1996) Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients.

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11.

Luzzatto L et al. (1997) Somatic mutations in paroxysmal nocturnal hemoglobinuria: a blessing in disguise?

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12.

Brodsky RA et al. (1997) Resistance to apoptosis caused by PIG-A gene mutations in paroxysmal nocturnal hemoglobinuria.

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13.

Nishimura J et al. (1999) Paroxysmal nocturnal hemoglobinuria: An acquired genetic disease.

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14.

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.

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15.

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.

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16.

Mahoney JF et al. (1992) Defective glycosylphosphatidylinositol anchor synthesis in paroxysmal nocturnal hemoglobinuria granulocytes.

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17.

Hirose S et al. (1992) Synthesis of mannosylglucosaminylinositol phospholipids in normal but not paroxysmal nocturnal hemoglobinuria cells.

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18.

Hillmen P et al. (2004) Effect of eculizumab on hemolysis and transfusion requirements in patients with paroxysmal nocturnal hemoglobinuria.

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19.

van den Heuvel-Eibrink MM et al. (2005) Childhood paroxysmal nocturnal haemoglobinuria (PNH), a report of 11 cases in the Netherlands.

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20.

Rosse WF et al. (1989) Paroxysmal nocturnal hemoglobinuria: the biochemical defects and the clinical syndrome.

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21.

Hillmen P et al. (1995) Natural history of paroxysmal nocturnal hemoglobinuria.

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22.

Bessler M et al. (1994) Somatic mutations and cellular selection in paroxysmal nocturnal haemoglobinuria.

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23.

Yeh ET et al. (1994) Paroxysmal nocturnal hemoglobinuria and the glycosylphosphatidylinositol anchor.

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24.

Rosse WF et al. (1996) Epidemiology of PNH.

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25.

Socié G et al. (1996) Paroxysmal nocturnal haemoglobinuria: long-term follow-up and prognostic factors. French Society of Haematology.

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