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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
Aplastische Anämie
Autoimmun-lymphoproliferatives Syndrom 5
Erbliche Blutungsübel
Familiäre Erythrozytose 2
Familiäre hämophygozytische Lymphohistiozytose
H-Syndrom
Hereditäre Thrombozytenerkrankungen
Hereditäre maligne Bluterkrankungen
Kongenitale sideroblastische Anämie-B-Zell-Immundefekt-periodisches Fieber-Entwicklungsverzögerungs-Syndrom
MIRAGE-Syndrom
Ovalozytose
Paroxysmale nächtliche Hämoglobinurie
PIGA
Retinitis pigmentosa mit Mikrozytose
Störungen des Cobalaminstoffwechsels
Vaskulitis durch ADA2-Mangel
Venöse thromboembolische Erkrankungen

Referenzen:

1.

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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2.

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

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3.

None (1996) Epidemiology of PNH.

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4.

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

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5.

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

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6.

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

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7.

None (1989) Paroxysmal nocturnal hemoglobinuria: the biochemical defects and the clinical syndrome.

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8.

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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9.

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

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10.

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

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11.

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

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12.

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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13.

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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14.

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

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15.

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

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16.

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

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17.

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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18.

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

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19.

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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20.

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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21.

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

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22.

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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23.

None (2008) Advances in the diagnosis and therapy of paroxysmal nocturnal hemoglobinuria.

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24.

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

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25.

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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26.

Orphanet article

Orphanet ID 447 external link
27.

OMIM.ORG article

Omim 300818 external link
Update: 14. August 2020
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