Nakagawa M, Tazawa Y, Kobayashi Y, Yamada M, Suzuki H, Konno T, Tada K
J Pediatr Gastroenterol Nutr. 1984 Jun;3(3):385-9. doi: 10.1097/00005176-198406000-00014.
Three Japanese patients with familial progressive intrahepatic cholestasis developed complications involving neurologic abnormalities characterized by ataxia and pigmentary retinopathy. Serum vitamin E concentrations were extremely low in all patients, suggesting a long-term vitamin E deficiency. High dose oral supplementation of alpha-tocopherol produced normal serum vitamin E levels in two patients. Parenteral administration of vitamin E resulted in no clinical improvement in one patient who first received the treatment at 14 years of age. In the other two patients, the progression of neurological abnormalities was slowed by vitamin E supplementation. Cholestyramine treatment resulted in an apparent decrease in serum vitamin E levels despite oral alpha-tocopherol supplementation.
三名患有家族性进行性肝内胆汁淤积症的日本患者出现了并发症，包括以共济失调和色素性视网膜病变为特征的神经功能异常。所有患者的血清维生素E浓度极低，提示长期维生素E缺乏。高剂量口服α-生育酚使两名患者的血清维生素E水平恢复正常。一名14岁开始接受治疗的患者，胃肠外补充维生素E未带来临床改善。在另外两名患者中，补充维生素E减缓了神经功能异常的进展。尽管口服了α-生育酚，但消胆胺治疗导致血清维生素E水平明显下降。
