Huang S C, Chen W J
Department of Pathology, Chang Gung Memorial Hospital, Kaohsiung, Taiwan, R.O.C.
Chang Gung Med J. 2000 Jan;23(1):43-7.
Renal dysplasia has rarely been reported to be associated with situs inversus. Only 4 cases were reported previously with a spectrum of anomalies including bilateral renal dysplasia, situs inversus totalis, and pancreatic and hepatic fibrosis. Recently we encountered another case. A 22-year-old mother, gravida 1 para 0, was in her 23rd week of gestation when she was found to have oligohydramnios. A dead baby was delivered by extraovular induction. On autopsy, Potter's sequences including flattened, low-set ears, receding chin, upturned nose, and club hands and feet were noted. The posterior fontanel was obliterated. Internal examination showed situs inversus totalis, bilateral renal dysplasia, and agenesis of bilateral ureters. There was increased interstitial fibrosis in the pancreas. None of the family members was known to have any renal anomalies. Pinar and Rogers suggested a new syndrome when situs inversus totalis was combined with bilateral renal dysplasia as well as multisystem fibrosis. In our case, 2 major abnormalities, i.e., situs inversus totalis and bilateral renal dysplasia, were present though the increase of interstitial fibrosis within the pancreas was not as significant. This case is likely to be within the spectrum of anomalies mentioned by Pinar and Rogers.
肾发育异常很少被报道与内脏反位有关。此前仅报道过4例，伴有一系列异常，包括双侧肾发育异常、完全性内脏反位以及胰腺和肝纤维化。最近我们又遇到了1例。一名22岁初产妇，孕1产0，妊娠23周时发现羊水过少。经体外引产娩出一死婴。尸检发现有波特序列征，包括扁平低位耳、小下颌、朝天鼻以及手足畸形。后囟门闭合。内部检查显示完全性内脏反位、双侧肾发育异常以及双侧输尿管缺如。胰腺间质纤维化增加。家族成员均无已知的肾异常。皮纳尔和罗杰斯提出，当完全性内脏反位合并双侧肾发育异常以及多系统纤维化时为一种新综合征。在我们的病例中，存在2个主要异常，即完全性内脏反位和双侧肾发育异常，尽管胰腺内间质纤维化的增加并不显著。该病例可能属于皮纳尔和罗杰斯所提及的异常范围。
