神经纤维瘤病 1 型。临床病例

R. Shiraliyeva, A. K. Mammadbayli, U. A. Asadova
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摘要

这篇文章所涉及的话题之所以具有现实意义,是因为医生们对这一病名知之甚少。因此,及时而错误的诊断可能导致错误的治疗,降低患者的生活质量,甚至导致死亡。我们调查的患者的诊断是根据美国国家卫生研究院制定的临床标准确定的。如果没有进行基因检查,可以认为既定诊断是合理的。当务之急是让多位医疗专业人士(神经科医生、创伤科医生、眼科医生、外科医生、儿科医生、妇科医生等)了解神经纤维瘤病(NF)这种疾病。美国国立卫生研究院制定的临床标准为诊断患者提供了有利条件。
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NEUROFIBROMATOSIS TYPE 1. CLINICAL CASE
The relevance of the topic covered in the article is related to the fact that doctors have little knowledge about this nosology. For this reason, a timely and incorrect diagnosis can result in wrong treatment, reduce the patient's quality of life and even lead to death. The diagnosis of the patient we investigated was determined according to the clinical criteria developed by the National Institute of Health of the United States. If genetic examination is not performed, the established diagnosis can be considered justified. It is imperative that several medical professionals (neurologist, traumatologist, ophthalmologist, surgeon, pediatrician, gynecologist, etc.) are aware of a disease like neurofibromatosis (NF). Basing on the clinical criteria developed by the US National Institutes of Health provides favorable conditions for diagnosing patients.
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