目的：

探讨我中心采用的胆囊结肠Roux-Y吻合胆汁部分内分流术治疗进行性家族性肝内胆汁淤积症的长期疗效。

材料与方法：

回顾性分析2003年8月-2014年11月于我中心治疗的34例进行性家族性肝内胆汁淤积症患儿的临床资料，所有患儿均接受胆囊结肠Roux-Y吻合胆汁部分内分流术治疗，并进行长期随访，随访方法包括电话及门诊定期复查，分析术后患儿的黄疸瘙痒环境状况、肝生化改善状况、肝活检有无肝病损加重、有无追赶性生长、有无癌变发生、有无复发在手术、有无肝移植及死亡等。

结果：

在本研究纳入的34例实施胆囊结肠吻合部分胆汁内引流术的患儿中，术后36个月，血清胆汁酸(0 = 325.83±153.09, 36 mos. = 48.36±79.71 μmol/L)与胆红素水平(0 = 163.54±106.02, 36 mos. = 23.38±17.66 μmol/L)较术前均显著下降（P＜0.001）。术后肝白蛋白合成显著改善(0 = 34.23 ± 6.78，36 mos = 41.22 ± 3.58 g/L,P =0.04),白球比升高。术前肝脏凝血功能较差，术后国际标准化比值比(0 = 1.26 ± 0.14, 36 mos = 0.97 ± 0.05)、部分凝血活酶时间(0 = 42.19 ± 6.54, 36 mos = 33.79 ± 5.24s)均有显著改善（P＜0.001）。与术前相比，术后患儿严重瘙痒程度下降显著（88.2% vs. 12.9%, P ＜ 0.001）。术前20例患儿存在生长发育缓慢，术后所有患儿均获得追赶性生长，术后36个月身高和体重达到或接近同年龄段正常水平（身高0 = -3.35, 36 mos. = -1.03，P＜0.001；体重0 = -3.67, 36 mos. = -1.65，P＜0.001）。术后中位随访时间81个月（3-171个月）。术后自体肝生存率为85.3%（29/34）。2例患儿术后复发再次接受手术治疗；2例患儿因复发难治性黄疸和瘙痒于胆囊结肠吻合术后20个月、39个月进行肝移植；3例患儿术后因胃肠道相关性脱水及胆管炎并发感染性休克而死亡。术后并发症包括胃肠道出血1例，胆汁泻引起电解质紊乱1例，胆管炎2例。术后23例患儿排便频率增加，但均未出现营养吸收障碍情况，23例患儿术后胆汁酸处于或接近正常水平，无黄疸及瘙痒发生。术后4例患儿出现严重便秘，血胆汁酸均＞200 umol/L及出现瘙痒，但经口服缓泻剂及灌肠后血胆汁酸降至正常，瘙痒缓解。

结论：

对于PFIC患儿，胆囊结肠Roux-Y吻合术内引流术可有效降低TBA水平及缓解黄疸和瘙痒症状，缓解患儿生长发育迟缓及肝脏病损加重，可作为治疗PFIC的一种可选术式。此外，术后出现不影响电解质紊乱和营养吸收障碍的排便频率增加更有利于患儿临床症状的缓解。本研究是第一次对于PFIC患儿采用胆囊结肠吻合术长期疗效的大规模样本研究，手术方法简单、耐受性好，总体改善了患儿的临床症状。

Objective：

To investigate the long-term outcomes after cholecystocolostomy for patients with progressive familiar intrahepatic cholestasis in our institution.

Methods:

We retrospectively analyzed the characteristics of 34 patients with PFIC who underwent cholecystocolostomy for bile diversions in our institution. Outcomes included changes in serum bile acids, bilirubin, pruritus, liver enzymes, and survival with native liver were assessed in a regular follow-up.

Results:

There are 34 patients underwent cholecystocolostomy for bile diversions. Partial liver function parameters significantly decreased postoperatively. serum total bilirubin (0 = 163.54±106.02, 36 mos. = 23.38±17.66 μmol/L) and bile acid (0 = 325.83±153.09, 36 mos. = 48.36±79.71 μmol/L) decreased after cholecystocolostomy in PFIC patients (P ＜ 0.001). All patients experienced decreased severity of pruritus (88.2% vs. 12.9%, P ＜ 0.001) and a greater freedom from growth retardation after cholecystocolostomy  (height 0 = -3.35, 36 mos. = -1.03，P＜0.001；weight 0 = -3.67, 36 mos. = -1.65，P＜0.001). Defecation frequency increased in PFIC patients after cholecystocolostomy (P = 0.002). 29 patients with native liver survival have not yet required liver transplantation after cholecystocolostomy. The median follow-up period was 81 months (3-171 months). 2 patients undertwent reoperation (60, 83 months post cholecystocolostomy); 2 patients undertwent orthotopic liver transplantation postoperative (20, 39 months post cholecystocolostomy); 3 patients died at home due to gastroenteritis-associated dehydration and cholangitis-induced septic shock before transplantation. 4 patients suffered from severe constipation, all associated with high serum bile acids (>200 umol/L) and pruritus. There were 23 patients suffered increased frequency of defecation, but these patients all have good outcomes and no complication associated with fat malabsorption occurred, the blood bile acids in these 23 patients were normal or near normal. And they all developed completely or near-completely free from jaundice and pruritus.

Conclusions:

Cholecystocolostomy is a safe and effective method for PFIC patients in decreasing TBA level and alleviating jaundice and pruritus. However, the defecation after cholecystocolostomy may be vital for the prognosis of PFIC patients, increased frequency of defecation is benefical to alleviate the clinical symptoms. This is the first long-term large scale analysis of cholecystocolostomy approaches to PFIC. Approaches single and well tolerated, and generally result in improvement of pruritus and cholestasis.