Childhood paroxysmal nocturnal haemoglobinuria (PNH), a report of 11 cases in the Netherlands

M. M. Van Den Heuvel-Eibrink, R. G.M. Bredius, M. L. Te Winkel, R. Tamminga, J. De Kraker, A. Y.N. Schouten-Van Meeteren, M. Bruin, E. T. Korthof

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46 Citaten (Scopus)

Samenvatting

Paroxysmal nocturnal haemoglobinuria (PNH) is characterized by intravascular haemolysis, nocturnal haemoglobinuria, thrombotic events, serious infections and bone marrow failure. This acquired disease, caused by a deficiency of glycosylphosphatidylinositol (GPI) anchored proteins on the haematopoietic cells, is rare in children. We describe 11 Dutch paediatric PNH patients (median age: 12 years, range 9-17 years) diagnosed since 1983, seven cases associated with aplastic anaemia (AA), four with myelodysplastic syndrome (MDS). Presenting symptoms were haemorrhagic diathesis (H = 10), palor/tiredness (n = 8), dark urine (n = 1), fever (n = 1) and serious weight loss (n = 1). Treatment consisted of prednisolone (n = 7), anti-thymocyte globulin (n = 3) and/or androgens (n = 5). Eventually, five patients received a bone marrow transplantation (BMT) (three matched unrelated donors/two matched family donors), of whom four are still alive. PNH, diagnosed by immunophenotypic GPI-linked anchor protein analysis, should be considered in all children with AA or MDS. BMT should be considered as a therapeutic option in every paediatric PNH patient with BM failure.

Originele taal-2Engels
Pagina's (van-tot)571-577
Aantal pagina's7
TijdschriftBritish Journal of Haematology
Volume128
Nummer van het tijdschrift4
DOI's
StatusGepubliceerd - feb. 2005
Extern gepubliceerdJa

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