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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.

DOI:10.1016/j.otc.2013.04.002
PMID:23910470
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。

相似文献

1
Why otolaryngologists need to be aware of Fanconi anemia.为什么耳鼻喉科医生需要了解范可尼贫血。
Otolaryngol Clin North Am. 2013 Aug;46(4):567-77. doi: 10.1016/j.otc.2013.04.002. Epub 2013 Jun 7.
2
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Head and neck squamous cell carcinoma in patients with Fanconi anemia.范可尼贫血患者的头颈部鳞状细胞癌
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Int J Oncol. 2015 May;46(5):2261-6. doi: 10.3892/ijo.2015.2895. Epub 2015 Feb 17.

引用本文的文献

1
Epithelial competition determines gene therapy potential to suppress Fanconi Anemia oral cancer risk.上皮细胞竞争决定了基因治疗抑制范可尼贫血相关口腔癌风险的潜力。
bioRxiv. 2025 Feb 27:2025.02.26.640284. doi: 10.1101/2025.02.26.640284.
2
Concepts of multi-level dynamical modelling: understanding mechanisms of squamous cell carcinoma development in Fanconi anemia.多级动力学建模概念:理解范可尼贫血中鳞状细胞癌的发生机制
Front Genet. 2023 Nov 2;14:1254966. doi: 10.3389/fgene.2023.1254966. eCollection 2023.
3
Impact of Epigenetics on Complications of Fanconi Anemia: The Role of Vitamin D-Modulated Immunity.
表观遗传学对范可尼贫血并发症的影响:维生素 D 调节免疫的作用。
Nutrients. 2020 May 9;12(5):1355. doi: 10.3390/nu12051355.
4
Dental-craniofacial manifestation and treatment of rare diseases.口腔颌面疾病的表现与治疗。
Int J Oral Sci. 2019 Feb 20;11(1):9. doi: 10.1038/s41368-018-0041-y.
5
Oral human papillomavirus is common in individuals with Fanconi anemia.口腔人乳头瘤病毒在范科尼贫血患者中很常见。
Cancer Epidemiol Biomarkers Prev. 2015 May;24(5):864-72. doi: 10.1158/1055-9965.EPI-15-0097-T. Epub 2015 Mar 25.