Naveh Y, Roguin N, Ludatscher R, Auslaender L, Schramek A, Aharon M
Gut. 1980 Sep;21(9):799-807. doi: 10.1136/gut.21.9.799.
A family with congenital hepatic fibrosis (CHF) and congenital heart disease (CHD) is presented. The consanguineous healthy parents gave birth to 12 children of whom 10 survived. One son had CHF and CHD, one daughter had CHF and a second daughter had CHD. Three other siblings probably had small a ventricular septal defect and another one probably had mild pulmonary valve stenosis. Development of portal hypertension and hypersplenism necessitated performing shunt operation on both siblings suffering from congenital hepatic fibrosis. Ultrastructural findings were giant mitochondria with large laminar inclusions in hepatocytes, and excess of villi and whorls of membranes and collagen fibrils between hepatocytes.
本文报告了一个患有先天性肝纤维化(CHF)和先天性心脏病(CHD)的家族。近亲结婚的健康父母育有12个孩子,其中10个存活。一个儿子患有CHF和CHD,一个女儿患有CHF,另一个女儿患有CHD。另外三个兄弟姐妹可能有小型室间隔缺损,另一个可能有轻度肺动脉瓣狭窄。由于门静脉高压和脾功能亢进的发展,需要对两名患有先天性肝纤维化的兄弟姐妹进行分流手术。超微结构检查发现肝细胞中有巨大线粒体,伴有大的板层状包涵体,肝细胞之间有过多的绒毛以及膜和胶原纤维的涡旋。