内分泌代谢罕见病的诊断和治疗

内分泌代谢系统包括内分泌腺体和内分泌组织，通过分泌激素调节人体机能。内分泌罕见病发病隐匿，临床表现与常见病有重叠，其中不少疾病属于遗传病，诊断依赖基因检测，常规治疗效果欠佳。根据2018年我国发布的第一批罕见病目录中疾病主要累及的内分泌器官，选择卡尔曼综合征、B型胰岛素抵抗、低磷性佝偻病等典型的内分泌罕见病，从垂体、胰腺、骨代谢3个方面对内分泌罕见病的致病机制、临床特点、治疗方法做一系统阐述。

Diagnosis and treatment of rare diseases of endocrine metabolism

The endocrine metabolic system includes endocrine glands and endocrine tissues that regulate body function by secreting hormones. The progress of endocrine rare diseases is concealed, and the clinical manifestations overlap with common diseases. Many of them are genetic diseases, and the diagnosis depends on genetic testing. The conventional treatment is not effective. According to the first rare disease catalogue issued in China in 2018 and the endocrine organs mainly involved, we select typical endocrine rare diseases such as Kallmann syndrome, type B insulin resistance and hypophosphatemic rickets for further investigation. With respect to pituitary, pancreatic and bone metabolism, the pathogenesis, clinical features, treatment methods of endocrine rare diseases are systematically elaborated.