Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026986 (myelodysplastic syndrome)
 14,926 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:Childhood paroxysmal nocturnal haemoglobinuria (PNH), a report of 11 cases in the Netherlands. 1568 69

Paroxysmal nocturnal hemoglobinuria (PNH), an acquired hematologic disorder characterized by intravascular hemolysis, nocturnal hemoglobinuria, thrombotic events, serious infections, and bone marrow failure, is very rare in children. PNH is caused by a somatic mutation of the phosphatidylinositol glycan (GPI) complementation class A (PIGA) gene, followed by a survival advantage of the PNH clone, which results in a deficiency of GPI-anchored proteins on hematopoietic cells. Currently, immunophenotypic GPI-linked anchor protein analysis has replaced the acid Ham and sucrose lysis test, as it provides a reliable diagnostic tool for this disease. The presence of PNH clones should be considered in every child with an acquired bone marrow failure syndrome, for example (hypoplastic) myelodysplastic syndrome and aplastic anemia, and/or unexpected serious thrombosis. Treatment of PNH in children is dependent on the clinical presentation. In cases of severe bone marrow failure, stem cell transplantation should be seriously considered as a therapeutic option even if no matched sibling donor is available. This article reviews the reported cases of PNH in children using the recently published guidelines for classification, diagnostics, and treatment.
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PMID:Paroxysmal nocturnal hemoglobinuria in children. 1729 Nov 33