Riely C A, LaBrecque D R, Ghent C, Horwich A, Klatskin G
J Pediatr. 1978 Mar;92(3):406-11. doi: 10.1016/s0022-3476(78)80428-4.
We report a father and son with the syndrome of cholestasis and peripheral pulmonic stenosis. These cases demonstrate the clinical and biochemical features noted in previous reports of this entity and allows us to differentiate clearly this syndrome, with its benign course, from other more progressive forms of intrahepatic cholestasis. The vertical transmission supports a genetic etiology for this disease. Although serum bile acid levels are elevated in these patients, the individual bile acids do not display a distinctive pattern and no abnormal bile acids are identified.
我们报告了一对患有胆汁淤积和外周肺动脉狭窄综合征的父子。这些病例展示了该疾病先前报道中所提及的临床和生化特征，并使我们能够清楚地将这种具有良性病程的综合征与其他更具进展性的肝内胆汁淤积形式区分开来。垂直传播支持了该疾病的遗传病因。尽管这些患者的血清胆汁酸水平升高，但各个胆汁酸并未呈现出独特的模式，也未发现异常胆汁酸。
