Hwang Mao-Sheng, Su Wen-Jen, Lin Ju-Li
Department of Paediatric Cardiology, Chang Gung Children's Hospital, Kweishan, Taoyuan, Taiwan.
Acta Paediatr. 2006 Apr;95(4):500-1. doi: 10.1080/08035250500377802.
Asplenia syndrome is one of the heterotaxy syndromes, which many familial and animal studies suggest are caused by the loss of adequate genetic control of normal left-right asymmetry development. Moreover, there has not been any environmental factor documented to cause these syndromes. Asplenia syndrome occurring in a pair of monozygotic twins is reported. In view of the negative family history, a new germline mutant gene might be the aetiology of our patients. Both twins are associated with some degree of discordant complex heart defects within the context of a high degree of "mirror-image" of the unpaired thoracoabdominal organs.
This report implies that sporadic asplenia syndrome might associate with new mutations and further genetic study may be indicated. These monozygotic twins' discordant phenotypes imply that some unidentified factors play an important role in their ultimate development of the same genetically determined abnormalities.
无脾综合征是内脏异位综合征之一，许多家族性和动物研究表明，它是由正常左右不对称发育的充分遗传控制缺失所致。此外，尚无任何环境因素被证明会导致这些综合征。本文报道了一对同卵双胞胎发生无脾综合征的病例。鉴于家族史为阴性，一个新的种系突变基因可能是我们患者发病的病因。这对双胞胎在不成对的胸腹器官高度“镜像”的情况下，均伴有一定程度的不一致性复杂心脏缺陷。
本报告提示散发性无脾综合征可能与新突变有关，可能需要进一步进行遗传学研究。这对同卵双胞胎不一致的表型表明，一些未明确的因素在他们最终发生相同的基因决定异常中起重要作用。
