PDF(Pubmed)
Abstract：
Sensenbrenner syndrome, also known as cranioectodermal dysplasia (CED), is a rare ciliopathy clinically characterized by congenital craniofacial, skeletal, and ectodermal defects. Chronic kidney and liver insufficiency are also present in this disorder. Cranioectodermal dysplasia is an autosomal recessive and heterogeneous genetic disease. Six genes (IFT122, WDR35, IFT140, IFT43, IFT52, and WDR19) are known to be associated with this syndrome. Until 2021 more than 70 patients have been reported with CED, however, an orthotopic liver transplantation has been reported only in one case. Here, we present a case report of sequential liver-after-kidney transplantation in a male patient affected by CED. The kidney and liver transplantation was performed at the age of 7 and 12 years, respectively. Patients with Sensenbrenner syndrome require a multidisciplinary medical management and should regularly be followed-up by hepatologists and nephrologists, as the liver and kidney diseases are the major cause of morbidity and mortality.
摘要：
Sensenbrenner综合征,也被称为颅外胚层发育不良（CED），是一种罕见的以先天性颅面为特征的纤毛病,骨骼，和外胚层缺陷。慢性肾和肝功能不全也存在于这种疾病中。颅外胚层发育不良是一种常染色体隐性遗传和异质性遗传疾病。已知六个基因(IFT122、WDR35、IFT140、IFT43、IFT52和WDR19)与该综合征相关。到2021年，已有70多名患者报告患有CED，然而,只有一例报道了原位肝移植。这里,我们介绍了一例接受CED的男性患者的序贯肝肾移植的病例报告.在7岁和12岁时进行了肾脏和肝脏移植，分别。Sensenbrenner综合征患者需要多学科的医疗管理，并应定期由肝病学家和肾病学家随访，因为肝脏和肾脏疾病是发病和死亡的主要原因。
