关键词: 儿童, 罕见病, 糖尿病, 遗传

Abstract: Rare diseases involve multiple systems， and may be related to the endocrine and metabolic systems， in which abnormal glucose metabolism accounts for a large proportion. Diabetes-related rare diseases  can be divided into monogenic diabetes， genetic syndrome with diabetes， rare immune mediated diabetes， and so on. These diseases often occur insidiously， and the clinical symptoms are overlapped with other systematic symptoms， which are easy to be missed in the diagnosis. Thediagnosis of diabetes-related rare diseases in children is a clinical difficulty. The identification of specific clinical phenotype and biochemical changes to increase the diagnosis rate of genetic detection is the key point. At present， there is no effective treatments， and symptomatic treatments are the main method. Targeted treatment based on precise diagnosis is the development direction in diabetes-related rare diseases in children.

Key words: child, rare disease, diabetes, heredity