發(fā)布時間：2018-07-11 14:21

  本文選題：范可尼貧血 + 誘因��； 參考：《重慶醫(yī)科大學》2013年碩士論文

【摘要】：目的:范可尼貧血（Fanconi anemia, FA）是一種罕見的常染色體或X染色體隱性遺傳病，本文旨在探究范可尼貧血的誘因、臨床特點、診治方法及預(yù)后，提高對范可尼貧血的認識。 方法:將我院收治的7例范可尼貧血患兒的臨床特點、實驗室檢查及診治經(jīng)過，結(jié)合國內(nèi)病例報道及國外診治進展進行回顧性分析。 結(jié)果:我院7例患兒發(fā)病年齡3至13歲，男6例，女1例。均以全血細胞減少伴先天畸形起病。貧血均呈大細胞性，外周血淋巴細胞比例增高，5例患兒存在胎兒血紅蛋白增高，2例患兒就診時尚未出現(xiàn)骨髓改變，2例患兒符合國際范可尼貧血學術(shù)會議提出的診斷標準，其余5例均為臨床診斷。住院期間這些患兒僅接受支持及抗感染治療后好轉(zhuǎn)出院，4例患兒失訪，1例患兒死于感染，1例患兒死于出血，1例患兒骨髓衰竭較輕，已隨訪2月。 結(jié)論：范可尼貧血的女性患者發(fā)病較晚，我國FA患者常見的先天畸形包括內(nèi)分泌異常、色素沉著、骨骼畸形、耳部畸形、腎臟及生殖系統(tǒng)畸形。本文推測FA患者的骨髓改變是漸進過程，有的發(fā)展快，有的發(fā)展慢，最終演變成為再生障礙性貧血骨髓象。染色體斷裂試驗是經(jīng)典的FA診斷依據(jù)，基因檢測可從分子遺傳學角度診斷FA。迄今為止造血干細胞移植是改善FA造血環(huán)境，提高患者長期無病生存率的唯一方法。移植時年齡、輸血次數(shù)、造血系統(tǒng)衰竭程度、CMV感染、畸形數(shù)量、供體性別、雄激素的應(yīng)用均與預(yù)后密切相關(guān)。各級醫(yī)師對FA的認知存在差異，早期診斷困難，加強各級醫(yī)院及專業(yè)檢驗機構(gòu)間的合作，將有助于FA的診治的發(fā)展。
[Abstract]:Objective: Fanconi anemia (FA) is a rare autosomal or X chromosome recessive hereditary disease. This article aims to explore the inducement, clinical characteristics, treatment and prognosis of Fanconi anemia, and to improve the understanding of Fanconi anemia. Methods: the clinical characteristics, laboratory examination, diagnosis and treatment of 7 cases of Fanconi anemia in our hospital were analyzed retrospectively, combined with the domestic case report and the progress of diagnosis and treatment abroad. Results: the age of 7 children in our hospital was 3 to 13 years old, 6 male and 1 female. All patients were diagnosed by whole blood cell reduction with congenital malformation. Anemia was large cell in all cases, and the proportion of peripheral blood lymphocytes was increased in 5 cases. 2 cases had no bone marrow changes at the time of treatment. 2 cases were in accordance with the diagnostic criteria proposed by the International Conference on Vankney anemia. The other 5 cases were all clinically diagnosed. During the period of hospitalization, these children only received support and antiinfective therapy, 4 cases of children without treatment, 1 case died of infection, 1 case died of hemorrhage, 1 case died of bone marrow failure, and the follow-up was 2 months. Conclusion: the female patients with Fanconi anemia are late onset. The common congenital malformations of FA patients in China include endocrine abnormalities, pigmentation, bone deformities, ear deformities, kidney and reproductive system deformities. This paper speculated that the bone marrow change of FA patients was a gradual process, some developed quickly, some developed slowly, and finally developed into aplastic anemia bone marrow image. Chromosome breakage test is the classical diagnostic basis for FA, and gene detection can diagnose FAA from the perspective of molecular genetics. So far, hematopoietic stem cell transplantation (HSCT) is the only way to improve FA hematopoietic environment and improve long term disease-free survival rate. Age, number of blood transfusions, degree of hematopoietic failure, CMV infection, number of malformations, donor sex, androgen use were closely related to prognosis. Doctors at all levels have different cognition of FA, and early diagnosis is difficult. Strengthening cooperation between hospitals and professional testing institutions at all levels will contribute to the development of FA diagnosis and treatment.
【學位授予單位】：重慶醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2013
【分類號】：R725.5

【參考文獻】

相關(guān)期刊論文 前10條

1 韓美玉,索黎,昝毓秀,張婉明;Fanconi貧血7例染色體畸變及手紋改變[J];第四軍醫(yī)大學學報;1991年04期

2 尚慶君,許忠,韓春錫;范可尼貧血二例報告[J];白求恩醫(yī)科大學學報;1993年05期

3 章o，

本文編號：2115484