儿科遗传性疾病临床教学的探索与实践

遗传性疾病是儿科学教学大纲规定的必学内容,主要包括染色体病和遗传性代谢病,虽然其发病率低,但其致残率高,早期诊断和治疗具有重要意义。由于其较罕见,临床上漏诊、误诊率高。提高医学生对于此类疾病的认知,掌握最新的诊断和治疗技术,对于提高遗传性疾病的整体诊治水平,具有重大意义。我们精选教学内容,选择一种最常见的染色体疾病—21-三体综合征作为重点讲解内容;遗传代谢病病种类繁多,早期确诊干预治疗,可以减轻损伤,降低并发症,我们选择苯丙酮尿症、肝豆状核变性作为重点讲解内容,课堂教学及课外教学等多种教学方法结合,使得教学精彩生动,让学生们对知识要点掌握得更牢固,加强医学生人文素质培养等,对遗传性疾病的临床教学进行了探索与实践。遗传性疾病发病率低、病种多、临床表现复杂,如何利用现有的一切资源,发挥临床专业教师的主导作用和医学生的主观能动性,提高该类疾病的总体诊治能力,还需要进一步探索。

Exploration and Practice of Pediatric Hereditary Diseases in Clinical Teaching

Hereditary disease is a necessary part of pediatrics syllabus,which mainly includes chromosome disease and hereditary metabolic disease.Although its incidence is low,its disability rate is high,and early diagnosis and treatment are of great significance.Because it is rare,the rate of missed diagnosis and misdiagnosis is high.It is of great significance to improve the medical students'cognition of this kind of disease and latest diagnosis and treatment techniques to improve the overall diagnosis and treatment level of hereditary diseases.We select one of the most common chromosome diseases---21-trisomy syndrome as the the explanation,genetic metabolic diseases are various,early diagnosis intervention treatment,can reduce injury,reduce complications,we choose phenylketonuria,hepatolenticular degeneration as the focus of the explanation,classroom teaching and extracurricular teaching methods to make the teaching wonderful and vivid,let students grasp the key points of knowledge more firmly,strengthen the cultivation of humanistic quality of medical students,and explore and practice the clinical teaching of hereditary diseases.The incidence of hereditary diseases is low,there are many diseases and complex clinical manifestations.How to make use of all existing resources,give play to the leading role of clinical teachers and the subjective initiative of medical students,and improve the overall diagnosis and treatment ability of this kind of diseases needs further exploration.