先天性胸廓畸形的遗传病因学研究进展

Advances in genetic etiology research of congenital chest wall deformity

先天性胸廓畸形是脊柱或肋骨发育异常导致的胸骨凹陷或突出畸形。临床上以鸡胸和漏斗胸最为常见,可伴随其他综合征出现,也可以单独存在。先天性胸廓畸形的遗传因素与单基因突变、多基因变异和染色体畸变有关。临床常见的伴有综合征的先天性胸廓畸形如马方综合征(Marfan syndrome)和努南综合征(Noonan syndrome)往往有相对固定且明确的致病基因,而单纯性先天胸廓畸形的遗传发病机制多样,对于综合征性和单纯性先天胸廓畸形的治疗方法也不同。因此我们需要在基础研究和临床诊治上对综合征性和单纯性先天胸廓畸形进行鉴别。

Congenital chest deformity is caused by abnormal development of spine or ribs,resulting in sternal depression or protrusion.Pectus carinatum and pectus excavatum are the most common diseases in clinic,which can either be accompanied by other syndromes or exist alone.The genetic factors of congenital thoracic deformity can be related to single gene mutation,polygene mutation and chromosome aberration.Common clinical congenital thoracic deformity with syndromes,such as Marfan syndrome and Noonan syndrome,often have relatively fixed and clear pathogenic genes.The genetic pathogenesis of non-syndromic and independent congenital thoracic malformations is usually diverse,and treatments for syndromic and non-syndromic congenital thoracic deformity are different.Therefore,it is necessary for us to differentiate syndromic and non-syndromic congenital thoracic deformities in basic research,clinical diagnosis and treatment.