Tibboel D, Gaag A V
Department of Paediatric Surgery, Sophia Children's Hospital, Rotterdam, The Netherlands.
Clin Perinatol. 1996 Dec;23(4):689-99.
The cause of CDH remains largely unknown. Although teratogenic factors have been described, no single gene mutation can be held responsible for this major congenital anomaly. The genetic background of familiar occurrence is variable. Careful documentation of both isolated and familiar cases, and the application of new techniques such as fluorescent in situ hybridization (FISH) and differential display in selected cases, might result in new explanations for possible genetic inheritance. Clinical evaluation of associated anomalies, together with increasing awareness of the genes involved in lung development, especially those guiding mesenchymal growth, will have great impact on increasing knowledge of the cause of this devastating anomaly.
先天性膈疝（CDH）的病因在很大程度上仍然未知。尽管已经描述了致畸因素，但没有单一基因突变可被认为是这种主要先天性异常的原因。家族性发病的遗传背景是可变的。对散发性和家族性病例进行仔细记录，并在选定病例中应用荧光原位杂交（FISH）和差异显示等新技术，可能会为可能的遗传继承带来新的解释。对相关异常的临床评估，以及对参与肺发育的基因（特别是那些指导间充质生长的基因）认识的不断提高，将对增加对这种毁灭性异常病因的了解产生重大影响。
