基因突变与遗传性内分泌代谢性疾病

Gene mutation and hereditary endocrine and metabolic diseases

遗传性内分泌代谢性疾病是内分泌代谢疾病中相当重要的一组疾病,临床表现复杂多变,诊治困难。遗传性内分泌代谢性疾病的分子基础是其相关基因发生突变,近年随着分子生物学技术的飞速发展,相当多的致病基因被发现,人们对此类疾病的理解逐步深入,同时也为临床诊断提供了快速准确的技术平台。本文将根据致病基因功能,对近年来遗传性内分泌代谢性疾病取得的进展进行阐述。

Hereditary endocrine and metabolic diseases were an important group of diseases, and with complicated clinical manifestations, it is hard to diagnose and treat. Gene mutation is the molecular basis of such disease. Nowadays, with the rapid development of molecular biology, many mutant genes are revealed and further information was obtained. Diagnosis of such diseases were therefore easier. This review will focus on the recent development of hereditary endocrine and metabolic diseases according to the functional classification of the mutant genes.