Hillmen P, Lewis S M, Bessler M, Luzzatto L, Dacie J V
Department of Haematology, Royal Postgraduate Medical School, London, United Kingdom.
N Engl J Med. 1995 Nov 9;333(19):1253-8. doi: 10.1056/NEJM199511093331904.
Paroxysmal nocturnal hemoglobinuria (PNH), which is characterized by intravascular hemolysis and venous thrombosis, is an acquired clonal disorder associated with a somatic mutation in a totipotent hematopoietic stem cell. An understanding of the natural history of PNH is essential to improve therapy.
We have followed a group of 80 consecutive patients with PNH who were referred to Hammersmith Hospital, London, between 1940 and 1970. They were treated with supportive measures, such as oral anticoagulant therapy after established thromboses, and transfusions.
The median age of the patients at the time of diagnosis was 42 years (range, 16 to 75), and the median survival after diagnosis was 10 years, with 22 patients (28 percent) surviving for 25 years. Sixty patients have died; 28 of the 48 patients for whom the cause of death is known died from either venous thrombosis or hemorrhage. Thirty-one patients (39 percent) had one or more episodes of venous thrombosis during their illness. Of the 35 patients who survived for 10 years or more, 12 had a spontaneous clinical recovery. No PNH-affected cells were found among the erythrocytes or neutrophils of the patients in prolonged remission, but a few PNH-affected lymphocytes were detectable in three of the four patients tested. Leukemia did not develop in any of the patients.
PNH is a chronic disorder that curtails life. A spontaneous long-term remission can occur, which must be taken into account when considering potentially dangerous treatments, such as bone marrow transplantation. Platelet transfusions should be given, as appropriate, and long-term anticoagulation therapy should be considered for all patients.
阵发性睡眠性血红蛋白尿（PNH）以血管内溶血和静脉血栓形成为特征，是一种与全能造血干细胞体细胞突变相关的后天性克隆性疾病。了解PNH的自然病史对于改善治疗至关重要。
我们对1940年至1970年间转诊至伦敦哈默史密斯医院的80例连续性PNH患者进行了随访。他们接受了支持性治疗措施，如在确诊血栓形成后进行口服抗凝治疗以及输血。
患者诊断时的中位年龄为42岁（范围16至75岁），诊断后的中位生存期为10年，22例患者（28%）存活了25年。60例患者已死亡；已知死因的48例患者中有28例死于静脉血栓形成或出血。31例患者（39%）在患病期间发生了一次或多次静脉血栓形成事件。在存活10年或更长时间的35例患者中，12例实现了临床自发缓解。在长期缓解患者的红细胞或中性粒细胞中未发现受PNH影响的细胞，但在接受检测的4例患者中的3例中可检测到少数受PNH影响的淋巴细胞。所有患者均未发生白血病。
PNH是一种缩短寿命的慢性疾病。可能会出现自发的长期缓解，在考虑诸如骨髓移植等潜在危险治疗时必须予以考虑。应酌情给予血小板输血，并应为所有患者考虑长期抗凝治疗。
