Recent advances in paroxysmal nocturnal hemoglobinuria. From the biology to the clinic.
PNH is now known as an acquired, clonal disorder of the hematopoetic stem cells caused by somatic mutation in the X-linked PIG-A gene encoding a protein involved in the synthesis of the glycosylphosphatidylinositol (GPI) anchor by which many proteins are attached to the membrane. Since the past few years, significant advances in the knowledge of the biology of this rare disease have been done. Similarly on the clinical ground, large series of patients with PNH have been published recently, providing estimates of factors affecting survival and of long term follow-up of significant numbers of patients. In this overview we focus on recent advances in the biology and the clinical aspects of this disease, and more importantly try to underline the numerous aspects of yet un-answered questions.
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Service d'Hématologie, Greffe de Moelle, Hôpital Saint Louis, Paris, France.
D005500:Follow-Up Studies; D017261:Glycosylphosphatidylinositols / Q000235:genetics; D006457:Hemoglobinuria, Paroxysmal / Q000235:genetics* / Q000628:therapy*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D010641:Phenotype; D016896:Treatment Outcome
D017261:Glycosylphosphatidylinositols; D008565:Membrane Proteins; C080086:phosphatidylinositol glycan-class A protein