Julia S, Bieth E
Service de Génétique Médicale, Hôpital Purpan, Toulouse.
Rev Mal Respir. 2000 Aug;17(3 Pt 2):807-11.
Genetic counseling is an important part of health care in patients with cystic fibrosis or respiratory diseases associated with the CFTR (cystic fibrosis transmembrane conductance regulator) gene, including certain types of allergic bronchopulmonary aspergilloses or bronchial diseases (diffuse bronchiectasia). The basic goal is to provide patients with information on the transmission of cystic fibrosis and to asses the risk of recurrence. This risk is determined from molecular biology analyses examining the CFTR gene. Genotyping is the only means of screening for the heterozygous state, frequent in the French population (about 1/30). Because of the large number of mutated alleles not covered entirely by the genetic tests, there remains a question of probability expressed as a residual risk of a heterozygous state. A prenatal genotype diagnosis should be proposed to heterozygous couples who have a 25% risk of having a diseased child. Technically, this is almost always possible and the results are highly reliable. Nevertheless, there remains the risks related to sample taking and the ethical issue about which the patients must be informed. Management of these at risk couples who desire a child must be based on a multidisciplinary approach, particularly important when one of the parents has overt cystic fibrosis.
遗传咨询是囊性纤维化患者或与CFTR（囊性纤维化跨膜传导调节因子）基因相关的呼吸系统疾病患者医疗保健的重要组成部分，这些疾病包括某些类型的变应性支气管肺曲霉病或支气管疾病（弥漫性支气管扩张）。基本目标是向患者提供有关囊性纤维化遗传传递的信息，并评估复发风险。这种风险是通过检测CFTR基因的分子生物学分析来确定的。基因分型是筛查杂合状态的唯一方法，在法国人群中这种状态很常见（约为1/30）。由于基因检测不能完全覆盖大量的突变等位基因，因此存在一个以杂合状态残余风险表示的概率问题。对于生育患病孩子风险为25%的杂合夫妇，应建议进行产前基因诊断。从技术上讲，这几乎总是可行的，而且结果高度可靠。然而，仍然存在与样本采集相关的风险以及必须告知患者的伦理问题。对这些想要孩子的高危夫妇的管理必须基于多学科方法，当父母一方患有明显的囊性纤维化时这一点尤为重要。
