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Paroxysmal nocturnal hemoglobinuria

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.

Management

Eculizumab seems to be a new quite effective medicament.

Systematic

Hereditary diseases of the hematopoetic system and coagulopathies
Aplastic anemia
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
H syndrome
Hereditary bleeding disorders
Hereditary malign blood disorders
Inheritable platelet disorders
MIRAGE syndrome
Ovalocytosis
Paroxysmal nocturnal hemoglobinuria
PIGA
Retinitis pigmentosa and erythrocytic microcytosis
Thromboembolic diseases
Vasculitis due to ADA2 deficiency

References:

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
28.

Wikipedia article

Wikipedia EN (Paroxysmal_nocturnal_hemoglobinuria) external link
Update: Aug. 14, 2020
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