Rösch W
Fortschr Med. 1977 Feb 3;95(5):263-6.
A genetic background is discussed in many disorders of the gastrointestinal tract with a disposition in addition to environmental factors. The pathophysiology of most hereditary diseases is unknown although the mode of inheritance is established. Biochemical analysis may show molecular defects or inborn lack of enzymes, cytogenetic studies may reveal chromosomal abnormalities. The knowledge of genetic factors in gastrointestinal disorders may contribute to the early detection of persons afflicted but not yet symptomatic, in some rare syndromes genetic counseling may become mandatory. Finally, there are many congenital malformations which may not cause symptoms for many years so that doubts may arise whether they are developmental anomalies or acquired conditions.
除环境因素外，许多胃肠道疾病都存在遗传背景易感性。尽管大多数遗传性疾病的遗传模式已明确，但其病理生理学尚不清楚。生化分析可能显示分子缺陷或先天性酶缺乏，细胞遗传学研究可能揭示染色体异常。了解胃肠道疾病中的遗传因素有助于早期发现未出现症状的患者，在某些罕见综合征中，遗传咨询可能成为必要措施。最后，有许多先天性畸形可能多年都不引起症状，因此可能会怀疑它们是发育异常还是后天获得性疾病。
