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单基因遗传性内分泌代谢病基因具有病种型繁多、涉病器官较多、诊断难度较大等特点,虽然其患者人数相对较少,但其病情机理成因复杂,很长一段时期内单基因遗传性内分泌代谢病基因的诊断和治疗成为临床医学难度相对较大的一种疾病。但是随着科技的进步以及生物科学技术的快速发展,越来越多的此类疾病基因被不断的发现和确诊,单基因遗传性内分泌代谢病基因取得了长足的进展。但是显然这一应用手段还不是十分普遍,这一局限于实验室的医学成果如何有效的转变成为临床医学手段便成为医学领域的一项新的挑战,以下,笔者将简要介绍单基因遗传性内分泌代谢病基因诊断逐步应用于临床实践的探析。
Single gene hereditary endocrine and metabolic disease genes with many types of diseases, more pathogens, diagnosis is difficult, and other characteristics, although the relatively small number of patients, but the pathogenesis of complex causes, a long period of single gene inheritance Sexual endocrine and metabolic disease gene diagnosis and treatment of clinical medicine become a relatively difficult degree of disease. However, with the progress of science and technology and the rapid development of biological science and technology, more and more of these disease genes are continuously discovered and diagnosed. The gene of single-gene hereditary endocrine and metabolic diseases has made great progress. Obviously, this application method is not yet very common. This limitation is limited to how to effectively transform laboratory medical achievements into clinical medicine and become a new challenge in the field of medicine. Below, I will briefly introduce single gene hereditary endocrine Metabolic disease gene diagnosis gradually applied to clinical practice.