Freeman H, Hill J R, Edwards A M, Wolowyk M W
Can Med Assoc J. 1973 Nov 17;109(10):1002 passim.
The presentation of symptoms, laboratory findings and possible precipitating factors are reviewed in an 18-year-old patient with the onset of typical paroxysmal nocturnal hemoglobinuria. The opportunity was taken to study the physiology in his normal identical twin sibling who showed no hematological abnormalities on exhaustive studies, including photoscanning of the erythrocytes. These observations strengthen the evidence that PNH is an acquired disease with no basic measurable abnormalities of a hereditary or genetic nature.
对一名18岁典型阵发性夜间血红蛋白尿发作患者的症状表现、实验室检查结果及可能的诱发因素进行了回顾。借此机会对其正常同卵双胞胎 sibling 进行了生理学研究,该 sibling 在包括红细胞光扫描在内的详尽检查中未发现血液学异常。这些观察结果进一步证明阵发性夜间血红蛋白尿是一种后天性疾病,不存在遗传性或基因性的基本可测量异常。