Paroxysmal nocturnal

Eculizumab Anti-complement protein C5 Paroxysmal nocturnal haematuria... 

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. 

Paroxysmal nocturnal hemoglobinemia (MIM 311770) Mutations in the PIG-A gene, affecting synthesis of GPI-anchored proteins... 

Symptoms of left-sided heart failure include dyspnea, orthopnea, and paroxysmal nocturnal dyspnea (PND), whereas symptoms of right-sided heart failure include fluid retention, gastrointestinal bloating, and fatigue. 

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... 

The primary symptoms are dyspnea (particularly on exertion) and fatigue, which lead to exercise intolerance. Other pulmonary symptoms include orthopnea, paroxysmal nocturnal dyspnea, tachypnea, and cough. 

The efficacy of diuretic treatment is evaluated by disappearance of the signs and symptoms of excess fluid retention. Physical examination should focus on body weight, extent of jugular venous distension, presence of hepatojugular reflux, and presence and severity of pulmonary congestion (rales, dyspnea on exertion, orthopnea, paroxysmal nocturnal dyspnea) and peripheral edema. 

Selvaraj, P., Rosse, W. F., Silber, R., Springer, T. A. (1988). The major Fc receptor in blood has a phosphatidylinositol anchor and is deficient in paroxysmal nocturnal haemoglobinuria. Nature 333,565-7. 

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. 

Goldstein, B. D. Production of paroxysmal nocturnal haemoglobinuria-like red cells by reducing the oxidizing agents. Brit. J. Haematol. 26 49-58, 1974. 

Congestive heart failure-. Functional status, cough, dyspnea on exertion, paroxysmal nocturnal dyspnea, exercise tolerance, and ventricular function... 

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

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