Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired defect in the myeloid stem cell lineage and can be seen as a rare, chronic, morbid disorder. Formally known as Marchiafava-Micheli syndrome, it received its current name as a descriptive term for the disease. Individuals afflicted with the disease wake up to dark, “cola” colored urine due to RBC breakdown and release of hemoglobin in the ...

Paroxysmal nocturnal hemoglobinuria is an acquired hematopoietic stem cell (HSC) disorder characterized by the partial or complete deficiency of glycosyl-phosphatidylinositol (GPI)-linked membrane proteins, which leads to intravascular hemolysis. A loss of function mutation in the PIG-A gene, required for GPI biosynthesis, explains how the deficiency of many membrane proteins can result from a ...

The hallmark of the autoimmune hemolytic anemias (AIHAs) and paroxysmal nocturnal hemoglobinuria (PNH) is shortened red blood cell survival. Although AIHA and PNH share the critical feature of shortened red cell survival, the mechanisms underlying this characteristic differ significantly between the two diseases. In the case of AIHA, autoantibodies directed against the patient’s own red blood c...

Renal involvement in paroxysmal nocturnal hemoglobinuria (PNH) is not usually apparent but in cases with clinical involvement varies from reversible acute dysfunction to chronic irreversible damage. Early diagnosis and treatment is crucial to prevent disease progression and irreversible chronic kidney disease (CKD). The ultimate outcome of CKD in many patients is the need for renal replacement ...

We have studied neutrophil intravascular life span in six patients with paroxysmal nocturnal hemoglobinuria (PNH); four had normal neutrophil counts when studied and two were neutropenic. Five patients had enough circulating neutrophils to isolate for tests in vitro. Lysis of labeled neutrophils was greatly increased, compared to that of normal volunteers, when these neutrophils were incubated ...

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired defect in the myeloid stem cell lineage and can be seen as a rare, chronic, morbid disorder. Formally known as Marchiafava-Micheli syndrome, it received its current name as a descriptive term for the disease. Individuals afflicted with the disease wake up to dark, “cola” colored urine due to RBC breakdown and release of hemoglobin in the ...

Paroxysmal nocturnal hemoglobinuria (PNH) is a hemolytic and pro-thrombotic disorder associated with the clonal expansion of hematopoietic stem cells harboring somatic mutations in the PIG-A gene. Mutations in PIG-A result in a lack of surface expression of all glycosylphosphatidylinositol (GPI)-anchored proteins, including the complement inhibitors CD55 and CD59, which is responsible for the h...

Long-term study of 21 PNH patients revealed an unexpectedly high incidence of functional and anatomic renal abnormalities. Most patients demonstrated varying degrees of hematuria and proteinuria distinct from hemoglobinuria. Evaluation of renal function revealed hyposthenuria, abnormal tubular function, and declining creatinine clearance. Radiologically these patients had enlarged kidneys, cort...

Paroxysmal nocturnal hemoglobinuria (PNH) is an uncommon acquired stem cell disorder associated with periodic hemolytic events. This benign clonal disease is caused by abnormalities of the Xlinked phosphatidylinositol glycan class A (PIGA) gene and is associated with cytopenias and thrombosis. Although the trilineage of bone marrow elements is affected, involvement of the red blood cell (RBC) l...

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired chronic disorder characterized by a triad of clinical features - hemolytic anemia, pancytopenia, and thrombosis. Not many reports of renal involvement in PNH are available in literature. We present a case series of PNH with renal involvement. We present the data of PNH patients who attended to Departments of General Medicine and Nephrolog...