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引用次数: 0

摘要

消化系统包括与食物加工有关的结构和器官,这些食物是生长、发育、维持和身体修复所必需的。影响这一系统的大多数疾病是由于细菌、病毒、原生动物和真菌的感染,而其他疾病是遗传性的。耳鼻喉(ENT)系统是一组复杂的结构,它们的运作机制相互关联。虽然一些耳鼻喉疾病是遗传性的,但环境影响也起着很大的作用。影响视力的疾病主要集中在眼睛的三层(巩膜、脉络膜和视网膜),它们使视力成为可能。当一种关键的酶被禁用,或者代谢途径的控制机制受到影响时,就会发生代谢紊乱。本章重点介绍了14种疑似遗传原因的疾病,包括囊性纤维化、糖尿病、葡萄糖-半乳糖吸收不良、血色素沉着症、肥胖、威尔逊病、齐薇格综合征、耳聋、Pendred综合征、Best病、青光眼、旋回萎缩、男性型秃顶和阿尔波特综合征。
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Digestive, Ear/Nose/Throat, and Eye Disorders
The digestive system includes the structures and organs involved in processing of foods required for growth, development, maintenance, and body repair. Most diseases affecting this system are due to infections from bacteria, viruses, protozoa, and fungi, while others are hereditary. The ear, nose, and throat (ENT) system is a complex set of structures sharing slightly interrelated mechanisms of operation. While some disorders of the ENT are hereditary, environmental influences play a big role. Diseases that affect eyesight primarily centre on three layers of the eye (sclera, choroid, and retina) which make eyesight possible. Disorders of metabolism occur when a crucial enzyme is disabled, or if a control mechanism for a metabolic pathway is affected. The chapter focuses on 14 diseases with suspected genetic causes including cystic fibrosis, diabetes, glucose-galactose malabsorption, hemochromatosis, obesity, Wilson's Disease, Zellweger syndrome, deafness, Pendred syndrome, Best Disease, glaucoma, gyrate atrophy, male pattern baldness, and Alport syndrome.
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Genomics and Genetic Testing Cellular Basis of Life Genetics and Public Health Human Nervous System Disorders Digestive, Ear/Nose/Throat, and Eye Disorders
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