title: Childhood paroxysmal nocturnal haemoglobinuria (PNH), a report of 11 cases in the Netherlands.
abstract: 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 (n = 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.
authors.affiliation: Erasmus Medical Centre-Sophia Children's Hospital, 3015 GJ Rotterdam, The Netherlands. m.vandenheuvel@erasmusmc.nl
authors.forename: M M
authors.initials: MM
authors.lastname: van den Heuvel-Eibrink
authors.forename: R G M
authors.initials: RG
authors.lastname: Bredius
authors.forename: M L
authors.initials: ML
authors.lastname: te Winkel
authors.forename: R
authors.initials: R
authors.lastname: Tamminga
authors.forename: J
authors.initials: J
authors.lastname: de Kraker
authors.forename: A Y N
authors.initials: AY
authors.lastname: Schouten-van Meeteren
authors.forename: M
authors.initials: M
authors.lastname: Bruin
authors.forename: E T
authors.initials: ET
authors.lastname: Korthof
mesh_terms: D000293:Adolescent; D000741:Anemia, Aplastic / Q000209:etiology; D016026:Bone Marrow Transplantation; D002648:Child; D005260:Female; D006457:Hemoglobinuria, Paroxysmal / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D006474:Hemorrhagic Disorders / Q000209:etiology; D006801:Humans; D008297:Male; D009190:Myelodysplastic Syndromes / Q000209:etiology; D012189:Retrospective Studies