Eyssen H, Eggermont E, van Eldere J, Jaeken J, Parmentier G, Janssen G
Acta Paediatr Scand. 1985 Jul;74(4):539-44. doi: 10.1111/j.1651-2227.1985.tb11025.x.
The Zellweger or cerebro-hepato-renal syndrome (CHRS) is a congenital disorder characterized by cerebral dysfunction, craniofacial dysmorphic features, transient cholestasis and renal cysts. Patients fail to thrive, and usually die in their first year of life. In some cases, a definite diagnosis on purely clinical signs might not be possible. Several biochemical abnormalities have been observed in these patients and some of them have been tested as diagnostic markers. The aim of this study is to evaluate bile acid metabolites as biochemical markers of the CHRS. From a study of 20 CHRS patients, we conclude that screening for the presence of coprostanic acids and the C-29 dicarboxylic bile acid in serum or urine is for detection of CHRS and confirmation of the diagnosis.
脑肝肾综合征（Zellweger综合征或CHRS）是一种先天性疾病，其特征为脑功能障碍、颅面部畸形特征、短暂性胆汁淤积和肾囊肿。患者生长发育迟缓，通常在出生后第一年死亡。在某些情况下，仅根据临床体征可能无法做出明确诊断。在这些患者中观察到了几种生化异常，其中一些已作为诊断标志物进行了检测。本研究的目的是评估胆汁酸代谢产物作为CHRS的生化标志物。通过对20例CHRS患者的研究，我们得出结论，检测血清或尿液中粪甾烷酸和C-29二羧酸胆汁酸的存在有助于CHRS的检测和诊断的确认。
