Hofmann A F, Strandvik B
Department of Medicine, University of California, San Diego, La Jolla 92093.
Lancet. 1988 Aug 6;2(8606):311-3. doi: 10.1016/s0140-6736(88)92359-8.
Biochemical and clinical features are predicted for an as yet unreported inborn error of metabolism, in which bile acids cannot be conjugated with glycine or taurine. Unconjugated cholic acid will be secreted into bile, be absorbed from the intestine, and become the predominant bile acid in bile and plasma. Other bile acids will be esterified with glucuronate and secreted into bile, but undergo little enterohepatic circulation. Cholestasis will not be present; the bile acid pool will be diminished and lipid absorption, especially that of fat-soluble vitamins, will be impaired. A secretory diarrhoea may occur, caused by increased bile acid concentrations in the colon. Awareness of this possible syndrome should aid in its identification; oral administration of bile acids conjugated with glycine or taurine should correct the metabolic and clinical abnormalities.
预测了一种尚未报道的先天性代谢缺陷的生化和临床特征，该缺陷中胆汁酸无法与甘氨酸或牛磺酸结合。未结合的胆酸将分泌到胆汁中，从肠道吸收，并成为胆汁和血浆中的主要胆汁酸。其他胆汁酸将与葡萄糖醛酸酯化并分泌到胆汁中，但很少进行肠肝循环。不会出现胆汁淤积；胆汁酸池将减少，脂质吸收，尤其是脂溶性维生素的吸收将受损。结肠中胆汁酸浓度增加可能导致分泌性腹泻。认识到这种可能的综合征应有助于其识别；口服与甘氨酸或牛磺酸结合的胆汁酸应能纠正代谢和临床异常。
