Taruscio D, Olivieri A
Laboratorio di Ultrastrutture, Istituto Superiore di Sanità, Roma.
Ann Ist Super Sanita. 1999;35(2):245-51.
Endocrine-metabolic diseases are very important because of either the variety of affected organs and the great social impact of at least some conditions, due to their high incidence and morbidity in the general population. A multifactorial origin has been recognized in many endocrine-metabolic diseases; in fact genetic and environmental risk factors contribute to the expression of pathologic phenotype. Recent progresses in molecular genetics allowed development of specific genetic tests which improved diagnosis of monogenic diseases and ascertainment of genetic susceptibility for some multifactorial pathologies. Therefore, management of the most important endocrine-metabolic diseases should take into account the interaction between improvement of the diagnosis and primary prevention actions through modification of environmental and lifestyle-related risk factors.
内分泌代谢疾病非常重要，这是因为受影响的器官种类繁多，而且至少某些病症具有重大的社会影响，原因在于它们在普通人群中的高发病率和高患病率。许多内分泌代谢疾病都已被认定具有多因素起源；事实上，遗传和环境风险因素会促使病理表型的表达。分子遗传学的最新进展使得能够开发特定的基因检测方法，这些方法改善了单基因疾病的诊断，并确定了某些多因素疾病的遗传易感性。因此，对最重要的内分泌代谢疾病的管理应考虑到通过改变与环境和生活方式相关的风险因素来改善诊断与一级预防行动之间的相互作用。
