摘要
范可尼贫血 (Fanconi′sanemia ,FA)是一种少见的常染色体隐性遗传性疾病 ,虽多数患者以骨髓造血功能衰竭合并先天畸形为特征 ,但临床表现常复杂多样 ,要靠细胞遗传学试验方能与再生障碍性贫血 (AA)等疾病鉴别。本研究通过对我国 2 7例正常人和 5 1例骨髓造血功能衰竭的患者 (48例临床诊断为AA ,3例临床诊断为FA)进行了丝裂霉素C(MMC)诱导的染色体断裂试验。结果表明 :①确诊FA 4例 ,其中 1例为纠正临床漏诊 ;少数非FA的AA患者可表现为骨髓造血功能衰竭合并先天畸形 ,而FA患者可无先天畸形 ,再次提示仅靠临床表现可造成FA的误诊漏诊。②AA ,FA和正常人自发染色体断裂无差别 ,非FA的AA患者细胞对MMC的敏感性与正常人无区别 ,FA患者细胞对MMC异常敏感 ,并以在 5 0ngMMC诱导出现较多高断裂数 (含 5以上断裂 )的分裂像为特征。③在 4例FA中发现嵌合体患者 1例。单一浓度MMC诱导的染色体断裂试验不足以诊断嵌合体患者 ,不同浓度MMC诱导的染色体断裂试验可以诊断嵌合体患者。结论提示 ,对可能为FA的骨髓造血功能衰竭的患者应采用本课题研究中的染色体断裂试验来有效的鉴别FA(包括FA嵌合体患者 )和AA。
Fanconi′s anemia(FA) is an autosomal recessive disease featuring a great diversity of clinical symptoms, including congenital malformation, growth retardation and bone marrow failure. Cells obtained from FA patients show a specific hypersensitivity to crosslinking agents such as mitomycin C(MMC). In this study, MMC-induced chromosome breakage tests have been done on 27 healthy controls and 51 patients with bone marrow failure〔including 48 patients with aplastic anemia(AA) and 3 patients with FA before cytogenetic analysis〕. The results showed that: ① Diagnosis of 4 FA cases was confirmed, and one of them was the correction of clinical misdiagnosis; bone marrow failure combined with congenital malformation was observed in a few of non-FA aplastic anemia patients, while 1 FA patient lacked congenital abnormality and underdiagnosed before cytogenetic analysis. The data confirmed that misdiagnosis or underdiagnosis of FA could be caused without cytogenetic study. ② Spontaneous chromosome breakages observed in FA patients were the same as those in AA patients and healthy controls. MMC-induced chromosome breakages observed in FA patient cells were much higher than those in AA patients and healthy controls, especially, metaphases containing more than 5 breakages were easily found in FA lymphocytes treated with 50 ng MMC. ③ Mosaic was found in one of the 4 FA patients. MMC-induced chromosome breakage test at different MMC concentrations could help to dignosis of FA mosaic patient.
出处
《中国实验血液学杂志》
CAS
CSCD
2000年第3期216-221,共6页
Journal of Experimental Hematology
基金
美国范可尼贫血研究基金会 (IFRF)资助
关键词
范可尼贫血
再生障碍性贫血
细胞遗传学诊断
Fanconi′s anemiaaplastic anemiamitomycin Cchromosome breakage testmosaiccytogenetic diagnosis
