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为什么耳鼻喉科医生需要了解范可尼贫血。

Why otolaryngologists need to be aware of Fanconi anemia.

作者信息

Lin Jiahui, Kutler David I

机构信息

Weill Cornell Medical College, New York, NY, USA.

出版信息

Otolaryngol Clin North Am. 2013 Aug;46(4):567-77. doi: 10.1016/j.otc.2013.04.002. Epub 2013 Jun 7.

Abstract

Fanconi anemia (FA) is a rare disorder inherited in an autosomal recessive fashion, with an estimated incidence of 1:360,000 births. Although hematologic complications are the most common manifestation of this disease, cancers, especially of the head and neck, are also prominent. The chromosomal fragility of patients with FA necessitates careful planning of therapy and monitoring, and awareness of this rare disorder is crucial to recognizing it in the clinic.

摘要

范可尼贫血(FA)是一种以常染色体隐性方式遗传的罕见疾病,估计发病率为1/360,000活产儿。虽然血液学并发症是该疾病最常见的表现,但癌症,尤其是头颈部癌症也很突出。FA患者的染色体脆性需要精心规划治疗和监测,了解这种罕见疾病对于在临床上识别它至关重要。

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