Nocturnal hemoglobinuria

Individuals with hereditary low plasma cholinesterase levels (Kalow 1956 Lehman and Ryan 1956) and those with paroxysmal nocturnal hemoglobinuria, which is related to abnormally low levels of erythrocyte acetylcholinesterase (Auditore and Hartmann 1959), would have increased susceptibility to the effects of anticholinesterase agents such as methyl parathion. Repeated measurements of plasma cholinesterase activity (in the absence of organophosphate exposure) can be used to identify individuals with genetically determined low plasma cholinesterase. 

Auditore JV, Hartmann RC. 1959. Paroxysmal nocturnal hemoglobinuria—II. Erythrocyte acetylcholinesterase defect. Am J Med 27 401-410. 

Paroxysmal nocturnal hemoglobinuria (MIM 311770) Mutation resulting in deficient attachment of the GPI anchor to certain proteins of the red cell membrane... 

Paroxysmal nocturnal hemoglobinuria (MIM 311770) Acquired defect in biosynthesis of the GPf structures of decay accelerating factor (DAF) and CD59. 

Other diseases Autoimmune diseases Amyloidosis Aplastic anemia Paroxysmal nocturnal hemoglobinuria Fanconi s anemia Thalassemia major Sickle cell anemia Severe combined immunodeficiency Inborn errors of metabolism... 

Soliris is for the treatment of paroxysmal nocturnal hemoglobinuria (PNH). PNH is a chronic disease where a patient s oxygen-carrying red blood cells are missing the normally present complement inhibitors. The cells are therefore abnormally fragile and inadvertently destroyed by normal complement activation. 

Brodsky RA Advances in the diagnosis and therapy of paroxysmal nocturnal hemoglobinuria. Blood Rev 2008 22 65. [PMID 18063459]... 

Specific proteins can be covalently attached via a carbohydrate bridge to membrane-bound PI (glycosylphosphatidylinositol, or GPI). This allows GPI-anchored proteins rapid lateral mobility on the surface of the plasma membrane. A deficiency in the synthesis of GPI in hematopoietic cells results in a hemolytic disease, paroxysmal nocturnal hemoglobinuria. 

Androgens also have been used in the management and treatment of agnogenic myeloid metaplasia, aplastic anemia, breast cancer, hereditary angiodema, osteoporosis, paroxysmal nocturnal hemoglobinuria, and sideroblastic anemia. 

In this case, ALPE was complicated by nocturnal hemoglobinuria. At the age of 20 years, the patient developed nocturnal hemoglobinuria. He had been treated in the Department of Hematology and Immunology in our hospital. On June 18, 2000, he participated in a practice baseball game from 0900 hours until 1500. At 1700 hours, right abdominal and loin pain occurred. On June 19, his serum creatinine level was 3.4mg/dl (before onset, 0.7mg/dl). On June 22, CT 24h after the administration of contrast medium showed patchy lesions (Fig. 43). On June 26, his serum creatinine level had returned to 1.2mg/dl. 

Ploug M, Plesner T, Ronne E, Ellis V, Hoyer-Hansen G, Hansen NE, et al. The receptor for urokinase-type plasminogen activator is deficient on peripheral blood leukocytes in patients with paroxysmal nocturnal hemoglobinuria. Blood 1992 79(6) 1447-1455. 

Little is yet known in regard to factors that might cause individual variation in acetylcholinesterase activity. The activity is greatly reduced in erythrocytes of persons with paroxysmal nocturnal hemoglobinuria, but this condition is rare (42). It has been reported that extended inhibition by organophosphates does not appear to affect adversely the survival of erythrocytes in the circulation as evidenced by observations (28,60,92) with DFP (diisopropyl fluorophosphonate), OMPA (octa-methyl pyrophosphoramide), and malathion (O,O-dimethyl dithiophos-phate of diethyl mercaptosuccinate). 

Paroxysmal nocturnal hemoglobinuria Thrombotic thrombocytopenic purpura Disseminated intravascular coagulation... 

Paroxysmal nocturnal hemoglobinuria is a very rare acquired disorder in which hemopoietic stem cells become peculiarly sensitive to complement-mediated lysis. Venous and possibly arterial thrombosis occurs in the brain and elsewhere. Patients are nearly always anemic at... 

Medof, M.E., Kinoshita, T, Silber, R. and Nussenzweig, V. (1985) Amelioration of lytic abnormalities of paroxysmal nocturnal hemoglobinuria with decay-accelerating factor. Proc. Natl Acad. Sci. U.S.A. 82, 2980-2984. 

Ware, R.E., Rosse, W.F. and Hall, S.E. (1995) Immunophenotypic analysis of reticulocytes in paroxysmal nocturnal hemoglobinuria. Blood 86, 1586-1589. 

BLAAS P, Berger B, Weber S, Peter HH, HANSCH GM. Paroxysmal nocturnal hemoglobinuria. Enhanced stimulation of datelets by die terminal complement components is related to die lade ofCSbp in the membrane. J Immunol IM 3045-3051,1988. 

KINOSHITA T, MEDW me, SILBER R, NuSSENZWEIG V. Distribution of decay-accelerating factor in the peripheral blood dnonnal individuals and patients with paroxyanal nocturnal hemoglobinuria JExp Mat 162 75-92,1985. 

Grossman, J.A., McDermott, W.V. Paroxysmal nocturnal hemoglobinuria associated with hepatic and portal vein thrombosis. Amer. J. Surg. 1974 127 733-736... 

The longer-term effects of immunosuppression, and in particular the residual hematological and immunological abnormalities in patients with aplastic anemia treated with antilymphocjde globulin, have been documented there is toxicity to hemopoietic cells, eventually leading to clonal marrow diseases years after treatment (37). Paroxysmal nocturnal hemoglobinuria, refractory sideroblastic anemia, chronic myelomonocytic leukemia, or acute leukemia can develop 4-10 years after treatment (40). 

Like oral iron, parenteral iron is used too widely. When iron is truly needed, oral administration is generally preferable (9). Intractable gastrointestinal intolerance to oral formulations, hyperemesis in pregnancy, very severe blood loss, and possibly ulcerative colitis are some of the few valid indications for parenteral iron. A low ironbinding capacity (for example due to prior saturating iron therapy or malnutrition), folic acid deficiency, and an allergic constitution predispose the patient to adverse reactions to parenteral iron. Iron injections have been reported to provoke hemolytic anemia in cases of paroxysmal nocturnal hemoglobinuria. 

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