Paroxysmal nocturnal hemoglobinuria (PNH) is a clonal, non-malignant, hematological disorder characterized by the expansion of hematopoietic stem cells and progeny mature blood cells which are deficient in some surface proteins, including the two complement regulators CD55 and CD59. PNH is the paradigm of diseases implying complement dysregulation as main pathogenic mechanism; in fact, PNH eryt...

Periventricular nodular heterotopia (PNH) is a neuronal migration disorder characterized by nodules of gray matter located along the lateral ventricles, which can range from isolated single nodules to bilateral confluent nodules. This malformation of cortical development can be related to genetic or extrinsic factors. Reading dysfluency, epilepsy and normal intelligence are main hallmark. PNH a...

Decreased renal function has been observed in diseases with intravascular haemolysis, including paroxysmal nocturnal haemoglobinuria (PNH). However, the mechanisms via which haemoglobin enhances renal damage in this pathology are not fully known. We report a case of acute renal failure associated to PNH and extensive haemosiderin deposits in tubular cells. Renal biopsy also revealed a strong im...

When paroxysmal nocturnal hemoglobinuria (PNH) erythrocytes were exposed to H(2)O(2) they lysed excessively and formed greater than normal quantities of lipid peroxides when compared to red cells of normal subjects and patients with most types of hematologic disease. It was also shown that lytic sensitivity to acidified serum was related to the enhanced lytic sensitivity to H(2)O(2). If the lip...

PNH is a clonal hematopoietic stem cell disease associated with a complementdependent hemolytic anemia. The disease manifests after the expansion of a multipotent hematopoietic stem cell that acquires a mutation of the PIGA gene. The PIGA gene product is required for the biosynthesis of glycophosphatidylinositol anchors, a glycolipid moiety that attaches dozens of proteins to the plasma membran...

Complement coating and hemolysis were observed when erythrocytes from patients with paroxysmal nocturnal hemoglobinuria (PNH) were incubated in isotonic sucrose solution in the presence of small amounts of serum. Normal cells were likewise coated with complement components but did not hemolyze. Both normal and PNH erythrocytes reduced the hemolytic complement activity of the serum used in this ...

BACKGROUND AND OBJECTIVES Paroxysmal nocturnal hemoglobinuria (PNH) is a clonal disorder due to a PIG-A gene mutation, resulting in deficient expression of GPI-anchored-proteins. Both immune-mediated suppression of hematopoiesis and cytokine alterations have been reported in aplastic anemia, a disease closely related to PNH whereas no data are available on PNH itself. The aim of this study was ...

N ABNORMALITY of the red cells of paroxysmal nocturnal hemoglobinuria ( PNH ) is responsible for their short life span in the circulation anu their lysis in vitro by certain factors present in normal plasma or serum. The hemolytic system in vitro is characteristically more active when the serum is made somewhat acid, about pH 6.8. The addition of thrombin to the serum is also capable of increas...

To investigate erythropoiesis in paroxysmal nocturnal hemoglobinuria (PNH), we studied the expression of glycosylphosphatidylinositol (GPI)-anchored membrane proteins on circulating erythrocytes and erythroblasts obtained by erythropoietic cell culture in nine patients with this disease. One-color and two-color flow cytometric analyses were performed using monoclonal antibodies for decay-accele...

Paroxysmal nocturnal hemoglobinuria them had the B variant of this enzyme (PNH) was diagnosed in a 26-year-old (as expected in female subjects heterozy-Nigerian woman who subsequently died gous at this sex-linked locus). The red of amebic colitis. The patient's red cells cells bearing the PNH abnormality only exhibited mosaicism with respect to glu-had the B variant, suggesting that they cose 6...