Paroxysmal nocturnal haemoglobinuria: nature's gene therapy?
نویسندگان
چکیده
The development of paroxysmal nocturnal haemoglobinuria (PNH) requires two coincident factors: somatic mutation of the PIG-A gene in one or more haemopoietic stem cells and an abnormal, hypoplastic bone marrow environment. When both of these conditions are met, the fledgling PNH clone may flourish. This review will discuss the pathophysiology of this disease, which has recently been elucidated in some detail.
منابع مشابه
Paroxysmal nocturnal haemoglobinuria (PNH) manifesting on CT as a pathologic segment of small bowel
Paroxysmal nocturnal haemoglobinuria, a rare, acquired, life-threatening disease of the blood, is characterised by a triad of haemolysis previously believed to occur mainly at night, bone marrow dysfunction, and thrombophilia. Paroxysmal nocturnal haemoglobinuria is customarily regarded to manifest clinically as haemolytic anaemia and haemoglobinuria experienced as reddened urine in the morning...
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MANCHESTER, R.C. (1945) Chronic haemolytic anaemia with paroxysmal nocturnal haemoglobinuria. Ann. intern. Med. 23, 935. MARKS, J. (1949) The Marchiafava Micheli syndrome. Quart. J. Med. 18, 105. NUSSEY, A.M. & DAWSON, D.W. (1956) Paroxysmal nocturnal haemoglobinuria. Case study, including evidence of affection of the marrow in the disease. Blood, 11, 757. SCOTT, R.B., ROBB-SMITH, A.H.T. & SCOW...
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MANCHESTER, R.C. (1945) Chronic haemolytic anaemia with paroxysmal nocturnal haemoglobinuria. Ann. intern. Med. 23, 935. MARKS, J. (1949) The Marchiafava Micheli syndrome. Quart. J. Med. 18, 105. NUSSEY, A.M. & DAWSON, D.W. (1956) Paroxysmal nocturnal haemoglobinuria. Case study, including evidence of affection of the marrow in the disease. Blood, 11, 757. SCOTT, R.B., ROBB-SMITH, A.H.T. & SCOW...
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عنوان ژورنال:
- Molecular pathology : MP
دوره 55 3 شماره
صفحات -
تاریخ انتشار 2002