124例范可尼贫血的病例经验：临床谱、血液学参数及染色体断裂分析
An experience with 124 cases of fanconi anemia: clinical spectrum, hematological parameters and chromosomal breakage analysis.
作者信息
Mahmood Rafia, Mahmood Asad, Khan Saleem Ahmed, Jaffar Raza
机构信息
Armed Forces Institute of Pathology Rawalpindi, Pakistan.
National University of Medical Sciences (NUMS) Rawalpindi, Pakistan.
出版信息
Am J Blood Res. 2021 Oct 15;11(5):498-503. eCollection 2021.
BACKGROUND
Fanconi anemia is an inherited bone marrow failure syndrome characterized by somatic abnormalities and an increased predisposition to malignancies.
OBJECTIVE
To determine the clinical spectrum and evaluate the hematological parameters as well as highlight diagnosis by chromosomal breakage analysis of Fanconi anemia patients.
MATERIAL AND METHODS
A total of 124 patients were diagnosed as having Fanconi anemia from August 2014 to May 2020 at Armed Forces Institute of Pathology, Rawalpindi, Pakistan. Clinical details, somatic abnormalities, radiological findings, lab parameters and result of chromosomal breakage analysis were noted and analyzed.
RESULTS
One hundred and twenty four (14.29%) were diagnosed as having Fanconi anemia (FA) on chromosomal breakage test. Median age was 09 years 06 months. Male to female ratio was 1.9:1. Six of these patients exhibited mosaicism and were classified as FA mosaic. Somatic abnormalities were detected in 74 (59.7%) patients; the most common being skeletal abnormalities and short stature.
CONCLUSION
Chromosomal breakage analysis is a cost-effective method for diagnosis of Fanconi anemia. Early diagnosis is pertinent for proper treatment and long term prognosis.
背景
范可尼贫血是一种遗传性骨髓衰竭综合征，其特征为躯体异常以及患恶性肿瘤的易感性增加。
目的
确定范可尼贫血患者的临床谱，评估血液学参数，并通过染色体断裂分析突出范可尼贫血的诊断。
材料与方法
2014年8月至2020年5月期间，巴基斯坦拉瓦尔品第武装部队病理研究所共诊断出124例范可尼贫血患者。记录并分析临床细节、躯体异常、放射学检查结果、实验室参数以及染色体断裂分析结果。
结果
124例（14.29%）患者经染色体断裂试验诊断为范可尼贫血（FA）。中位年龄为9岁6个月。男女比例为1.9:1。其中6例患者表现为嵌合体，被归类为FA嵌合体。74例（59.7%）患者检测到躯体异常；最常见的是骨骼异常和身材矮小。
结论
染色体断裂分析是诊断范可尼贫血的一种经济有效的方法。早期诊断对于恰当治疗和长期预后至关重要。
Zotero 插件