Bezerra J A, Balistreri W F
Division of Gastroenterology, Hepatology, and Nutrition, Children's Hospital Medical Center, Cincinnati, OH 45229-3039, USA.
Semin Gastrointest Dis. 2001 Apr;12(2):54-65.
Cholestasis results from structural and functional impairment of the hepatobiliary system, which is often the target of several environmental factors and disease processes. This review focuses on the clinical consequences of this impairment. When evaluating an infant or child with cholestasis, a broad differential diagnosis must be considered; viral infections, metabolic disorders, and toxic insults may often lead to cholestasis. In the infant, cholestasis associated with severe hepatic synthetic dysfunction points to life-threatening metabolic disorders. In this setting, early diagnosis and prompt treatment offer the only chance for survival. Fortunately, cholestasis in infants presents more frequently with initially normal liver synthetic function. In those infants without evidence of infection, evaluation for patency of the extra-hepatic biliary system is a high priority. Biliary atresia comprises a significant portion of these patients and requires surgical intervention with portoenterostomy in an attempt to improve biliary flow. In a substantial group of infants and older children in whom the cause for cholestasis is not apparent, typical clinical and biochemical markers may allow the identification of specific genetic defects of syndromes that result from abnormal canalicular transporters.
胆汁淤积是由肝胆系统的结构和功能损害引起的，而肝胆系统常常是多种环境因素和疾病进程的靶器官。本综述聚焦于这种损害的临床后果。在评估患有胆汁淤积的婴幼儿时，必须考虑广泛的鉴别诊断；病毒感染、代谢紊乱和毒性损伤常常可导致胆汁淤积。在婴儿中，与严重肝脏合成功能障碍相关的胆汁淤积提示存在危及生命的代谢紊乱。在这种情况下，早期诊断和及时治疗是生存的唯一机会。幸运的是，婴儿胆汁淤积最初肝脏合成功能通常正常的情况更为常见。在那些没有感染证据的婴儿中，评估肝外胆道系统的通畅情况是重中之重。胆道闭锁在这些患者中占很大一部分，需要进行肝门空肠吻合术的手术干预，以试图改善胆汁流动。在相当一部分胆汁淤积病因不明的婴幼儿和大龄儿童中，典型的临床和生化标志物可能有助于识别由小管转运体异常导致的特定综合征的基因缺陷。
