婴儿胆汁淤积症88例临床研究

Clinicalstudy of 88 infants with cholestasis

目的探讨婴儿胆汁淤积症的临床特点和诊断方法。方法收集我科2009-2011年收治的88例胆汁淤积症患儿,对其病因、临床检查、病理及预后进行分析。结果婴儿胆汁淤积症男孩、足月儿多见;2~3月龄发病率高。本组患儿中胆道闭锁组19例;肝内淤胆组69例,其中仅10.1%明确病因。胆道闭锁组γ谷氨酰转肽酶（GGT）水平明显高于肝内淤胆组,其他生化指标差异无统计学意义。血筛瓜氨酸血症1例;尿筛40%患儿高度怀疑Citrin缺陷。肝内淤胆组中23例行LSC25A13基因12种突变位点的检测,结果均为阴性。胆道闭锁组B超确诊率为64.7%。49例肝组织病理提示两组胆汁性肝硬化发生率差异有统计学意义（P〈0.01）。两组的病死率和好转痊愈率差异有统计学意义（P〈0.01）。结论胆道造影术、内科动态观察是鉴别胆道闭锁的常用方法,前者更可靠。对于有肝内胆汁淤积病史或存在肝功能反复异常者,应积极找病因,注意代谢病检查,并长期随访。

Objective To investigate the clinical characteristics and the diagnostic method of the infant cholestasis. Methods We collected 88 infants with cholestasis and analyzed the causes ,clinical examinations, pathology and prognosis. Results More males than females were included in the study. Infants two or three months old were more common. Nineteen patients were diagnosed with biliary atresia and 69 patients with intrahepatic cholestasis. 10.1% patients had obvious causes of disease. The level of GGT in the group of biliary atresia was higher than that in the group of intrahepatic cholestasis. The difference of other biochemical indicators was not predominant. One patient were Citrullinemia and 40% patients were suspected to be Citrin deficiency by the screening of urine. All exons and their neighboursequences of SLC25A13 gene were analyzed in 23 children who were in the group of intrahepatic cholestasis. The rate of the final diagnosis of the biliary atresia was 64.7% by B-mode ultrasonic diagnose. The liver pathology indicated that the difference of the incidence of the biliary cirrhosis between the two groups was significant （P 〈 0.01）. The differences of the mortality and the rate of recovery between the two groups weresignificant （P 〈 0.01）. Conclutions Biliary Tract X-ray examination and clinic observation are the two common diagnostic methods to identify the biliary atresia, however, the former is more accurate. We should pay attention to those infants who are diagnosed intrahepatic cholestasis or those patients who have abnormal liver functions. Identifying the causes of infant cholestasis agressively, especially metabolic disease should be carried out. These patients should be followed for long term.