76例阵发性睡眠性血红蛋白尿症患者临床特点分析

Clinical features of 76 Chinese patients with paroxysmal nocturnal haemoglobinuria

目的总结阵发性睡眠性血红蛋白尿症（PNH）患者的临床特点，提高对新诊断技术应用下我国PNH患者临床特点的认识。方法回顾性分析76例PNH患者临床资料，对其临床表现、实验室检查、并发症进行分析。结果76例PNH患者中男46例，女30例，中位年龄40（10—74）岁。46例（60．5％）患者以溶血为主要表现；16例（21．1％）以骨髓衰竭为主要表现；14例（18．4％）以血栓形成为主要表现，其中门静脉血栓7例、下肢深静脉血栓3例、脑血栓2例、肺栓塞2例。CD55／CD59阴性红细胞（CD55-CD59-RBC）比例分别为（34．24±25．50）％及（32．22±23．12）％，CD55／CD59阴性中性粒细胞（CD55CD59-NEU）比例分别为（61．23±27．47）％及（60．24±25．59）％，平均LDH水平为（1199．2±893．5）U／L。并发症：13例（17．1％）发生肾功能损害，12例（15．8％）合并胆囊炎，10例（13．2％）合并出血，9例（11．8％）并发感染。对68例患者进行随访，中位随访时间为7（0．5～20）年，其中2例进展为骨髓增生异常综合征／急性髓系白血病，1例合并卵巢癌。合并血栓的患者CD59-NEU比例为（73．45±22．32）％，明显高于无血栓的患者[（58．3±20．2）％]，差异有统计学意义（P〈0．05）。结论本组PNH患者有较高的血管内溶血发生率、血栓和肾功能损伤并发症比例。合并血栓的PNH患者外周血CD59一NEU比例更高。

Objective To further analyse the relationship between the new technology and clinical charaeteristers in paroxysmal nocturnal haemoglobinuria （PNH） patients, and summarize the data of PNH during the past 15 years in China. Methods 76 consecutive patients with PNH diagnosed in Peking Union Medical Colleague Hospital from 1997 -2011 retrospectively. Results Most of the patients were diagnosed based on flow eytometric data. There were 46 male and 30 female patients. The median age at diagnosis was 40 （ 10 - 74 ）. 46 （ 60.5 % ） patients presented with classical PNH, 16 （ 21. 1% ） paneytopenias, and 14 （18.4%） thrombosis. Anatomic locations of first thrombosis were intra abdominal in 7 patients, lower ex- tremities in 3 patients, intracerebral in 2 patients, and pulmonary thrombosis in 2 patients. The size of PNH clone at first determination （ shown by CD55 and CD59 negative percentage） was （ 61.23 _＋ 27.47 ） % and （60.24 -＋ 25.59） % on neutrophils ; （34.24 _＋ 25.50） % and （32.22 ＋_ 23.12） % on erythrocytes, respec- tively. The mean LDH level was （1199.2 ＋ 893.5 ） U/L. In our cohort, 13 （17.0%） patients suffered from renal deficiency, 12 （ 15. 8% ） patients cholecystolithiasis, 10 （ 13. 2% ） patients hemorrhage and 9 （11.8% ） patients infections. In a median of 7-year （range 0.5 -20 years ） follow-up （68 patients）, 2 （2.9%） patients developed into myelodysplastic syndromes/acute myeloid leukemia, 1 （1.5%） patient ova- ry cancer, 11 （ 14.5% ） patients died. Patients with thrombosis had higher percentage of CD59 negative neu- trophils [ （73.45 -＋ 22.32） % ~ compared with those without thrombosis [ （ 58.3 ＋ 20.2 ） % ] （ P 〈 0.05 ）. Conclusions The cohort had higher percentage of classical hemolysis, thrombosis and renal dysfunction compared with previous reports in China. Patients with thrombotic events had higher percentages of CD55 and CD59 negative neutrophils.