从罕见内分泌疾病研究看精准内分泌学的发展

 罕见病指患病率低于7/10000的疾病，是精准医学研究的重要生物学模板和理想平台。多发性内分泌腺瘤综合征（MEN）、新生儿糖尿病、库欣氏综合征、先天性瘦素缺乏症等多种罕见内分泌疾病研究都反映了精准医学在内分泌领域的作用。在此基础上，本文进一步概括精准内分泌学的发展方向，在骨质疏松症、糖尿病、肥胖等内分泌疾病中应用精准医学，有助于对个体发病风险进行评估和预防，对复杂疾病进行精确诊断及分型，对疾病进行个体化治疗。此外，医学信息学在精准内分泌学领域的应用不仅可推动大数据平台建设，也提供了针对多因素复杂内分泌疾病的诊疗新思路。随着分子生物学技术的发展，建立罕见内分泌疾病的基因型和表型大数据平台，对于实现罕见内分泌疾病的精准诊疗具有重要意义。

Development of accurate endocrinology and the rare endocrine diseases

The rare diseases are characterized by an incidence less than 6.5/10000, which are both an ideal field of the precision medicine research and a significant area of clinical practice. The study of rare endocrine diseases, including the multiple endocrine neoplasia (MEN), the neonatal diabetes, the Cushing's syndrome and the congenital leptin deficiency syndrome, witnesses the development and the impact of the precision medicine. Based on a review in this respect, we discusses the future trend of the precision endocrinology in China. The precision medicine applied in the endocrine diseases such as the osteoporosis, the diabetes, and the obesity enables a better assessment of the individual risk of the endocrine diseases and can also help subclassify the diseases. Consequently, an individualized therapy could be realized. Furthermore, the medical informatics applied in the precision endocrinology may help the progress of building a big data platform and cast light in the new therapy of multifactorial diseases. The precision medicine of the rare endocrine diseases will become more prominant in a near future with the development of the sequencing technology and the establishment of the big data platform.