Ohkawa H, Matsumoto M, Hori T, Kashiwa H
Department of Pediatric Surgery, University of Tsukuba, Ibaraki, Japan.
Eur J Pediatr Surg. 1993 Apr;3(2):67-71. doi: 10.1055/s-2008-1063513.
Thirteen cases of congenital diaphragmatic hernia were encountered in one of the three pig families, established by us as a disease model of ano-rectal malformations. Five were males and 8 were females. The age at the onset of symptoms ranged between one and 4 months after birth. On the laterality, 7 had right side, 5 had left side and one had bilateral hernias. No hernial sac was observed. Herniated organs were intestine in the right and stomach in the left side. Thus congenital origin with late onset was suggested as a cause of the disease. In the studies of the heredity, there was no linkage between ano-rectal malformations and diaphragmatic hernia. Double recessive genes were supposed as a mode of inheritance, according to the statistical calculation. An effort is being made to produce a model of congenital diaphragmatic hernia from the pig family.
在我们建立的作为肛门直肠畸形疾病模型的三个猪家族之一中，发现了13例先天性膈疝病例。其中5例为雄性，8例为雌性。症状出现的年龄在出生后1至4个月之间。从疝的位置来看，7例为右侧，5例为左侧，1例为双侧疝。未观察到疝囊。右侧疝入的器官为肠，左侧为胃。因此提示先天性起源且发病较晚是该病的病因。在遗传研究中，肛门直肠畸形与膈疝之间没有连锁关系。根据统计计算，推测为双隐性基因遗传模式。正在努力从这个猪家族中培育出先天性膈疝模型。
