Kot Małgorzata, Kruk-Jeromin Julia
Klinika Chirurgii Plastycznej ICh AM w Łodzi.
Pol Merkur Lekarski. 2003 Aug;15(86):158-60.
Etiopatology of clefts has not been explained yet. It is assumed that the cause of this defect is complex and heterogeneous. Genes which induce the incidence of cleft have not been detected too but clinical observations indicate a familial predisposition. At the Plastic Surgery Clinic of the Łódz Medical Academy, on years 1972-2001, 3180 children with cleft lip or/and palate were being treated. The group under examination consisted of 540 children with positive family histories. Two genetic groups were confirmed and each of them with a different risk of the reoccurrence of the defect. The first group--cleft lip and palate, the second group--an isolated cleft palate. A correlation between the type of cleft and a child's sex and its cleft affected parent was found. Among children of mothers with cleft lip there were 60% of boys and only 15% of girls with the same type of cleft. In mothers with cleft lip and palate the same type of cleft has been detected in 70% of boys and 18% girls. Similar results were obtained when affected fathers were taken into account. However, in case of mothers and fathers who were affected with isolated cleft palate there were significantly more girls than boys who had cleft palate. An in-depth study of cleft inheritance mechanisms will make in the future a more precise prediction of the occurrence of the defect in consecutive generations possible. Perhaps, the chance to work out cleft preventions will emerge and the gathered data will be taken advantage of in genetic counselling.
唇腭裂的病因尚未得到解释。据推测,这种缺陷的成因复杂且具有异质性。虽然尚未检测到引发唇腭裂的基因,但临床观察表明存在家族易感性。在罗兹医科大学整形外科学院,1972年至2001年期间共治疗了3180例唇裂或/和腭裂患儿。受检组包括540例有家族病史的患儿。确认了两个基因群组,且每个群组出现该缺陷复发的风险不同。第一组——唇腭裂,第二组——单纯腭裂。发现了腭裂类型与患儿性别及其患腭裂的父母之间的相关性。在唇裂母亲的子女中,患同类型唇裂的男孩占60%,女孩仅占15%。在唇腭裂母亲的子女中,患同类型唇裂的男孩占70%,女孩占18%。考虑受影响的父亲时也得到了类似结果。然而,在单纯腭裂的母亲和父亲中,患腭裂的女孩明显多于男孩。对腭裂遗传机制的深入研究未来将有可能更精确地预测连续几代人中该缺陷的发生情况。也许,制定腭裂预防措施的机会将会出现,并且所收集的数据将用于遗传咨询。