以新生儿胆汁淤积症为首要表现的垂体柄阻断综合征4例

目的：探讨以新生儿胆汁淤积症为首要表现的垂体柄阻断综合征（PSIS）的临床特点,提高对PSIS的认识。方法：对4例以新生儿胆汁淤积症起病的PSIS患儿的临床特点、实验室检查、肝脏组织病理检查、影像学表现及预后进行回顾性分析。结果：男3例,女1例,均以新生儿胆汁淤积症为首要表现,诊断年龄2～3月龄。4例均表现为胆汁淤积、低血糖和生长发育迟缓。隐睾和小阴茎各1例。4例总胆红素均升高,以直接胆红素升高为主,丙氨酸转氨酶（ALT）和天冬氨酸转氨酶（AST）均升高,以AST升高更明显,γ-谷氨酰转移酶均正常,总胆汁酸均升高;4例均存在肾上腺皮质功能减退,3例生长激素缺乏,2例中枢性甲状腺功能减退。2例行肝组织活检,肝脏病理提示肝细胞气球样变并相互融合形成多核巨细胞,肝细胞内胆汁淤积,毛细胆管内胆栓形成,免疫组化胆盐输出泵在1例无表达,1例部分表达。4例垂体MRI均未显示垂体柄、垂体后叶异位,3例垂体前叶发育不良。4例均予氢化可的松口服治疗,2例甲状腺功能减退的患儿予左甲状腺素钠口服替代治疗。随访4～19个月,4例患儿肝功能正常,甲状腺激素水平、皮质醇水平正常,未出现严重感染,生长发育水平较正常同年龄同性别儿童落后。结论：新生儿期表现为胆汁淤积症、低血糖的患儿应警惕PSIS,垂体MRI有助于明确诊断;早期诊断和治疗可改善PSIS的预后。     

婴儿肝内胆汁淤积症患儿的临床特征及基因分析

目的 分析婴儿肝内胆汁淤积症患儿的临床资料及基因变异特点。方法 收集2017年6月至2019年6月于首都儿科研究所附属儿童医院消化内科就诊的疑似遗传代谢性婴儿肝内胆汁淤积症患儿的临床资料,采用目标基因捕获结合高通量测序技术进行基因检测,并进行Sanger验证。结果 共纳入40例患儿,13例（32%）患儿发现致病基因,包括3例SLC25A13基因突变导致的希特林蛋白缺乏症,3例JAG1基因突变导致的Alagille综合征,3例ABCB11基因突变导致的进行性家族性肝内胆汁淤积症2型,1例HSD3B7基因突变导致的先天性胆汁酸合成障碍1型,1例AKR1D1基因突变导致的先天性胆汁酸合成障碍2型,1例NPC1基因突变导致的尼曼匹克病,1例CFTR基因突变导致的囊性纤维化。结论 婴儿肝内胆汁淤积症病因繁多,高通量测序技术对临床疑似遗传代谢病的肝内胆汁淤积症患儿的诊断有重要价值。     

急性淋巴细胞白血病患儿左旋门冬酰胺酶联合化疗期间血糖监测的临床研究

目的探讨急性淋巴细胞性白血病(ALL)患儿应用左旋门冬酰胺酶(L-ASP)联合化疗期间药物性高血糖发生的概率及高危因素,以及药物性高血糖与药物性胰腺炎的相关性。方法 2002年5月1日至2008年4月30日共收治594例ALL患儿,以2005年5月1日为分界线,之前的197例ALL初治患儿和43例复发再治患儿应用XH-99方案;之后的354例患儿按儿童ALL-05方案进行化疗。在应用L-ASP联合化疗期间检测空腹血糖,对发生药物性高血糖的患儿采取暂缓L-ASP化疗,减少激素剂量,以及糖尿病饮食控制和注射胰岛素的治疗措施。结果共12例患儿发生药物相关性高血糖,发生率为2.02%;发生高血糖患儿与未发生高血糖患儿比较,中位年龄差异有统计学意义(11.5岁对5.0岁,P<0.01)。两种治疗方案患儿药物性高血糖发生率差异无统计学意义(P=0.26)。12例药物性高血糖患儿经治疗后,均得到控制。未发生药物性高血糖的患儿中发生药物相关性胰腺炎2例。结论 ALL患儿采用L-ASP联合化疗期间,药物性高血糖发生率约2%,年龄是发生药物性高血糖的重要因素,药物性高血糖可控制。[临床儿科杂志,2012,30(5):415-417]     

儿童进行性家族性肝内胆汁淤积症4例临床分析

目的 分析儿童进行性家族性肝内胆汁淤积症(PFIC)的临床表现、基因突变、预后等,提高对该病的认识,以期早期诊断及治疗.方法 回顾性分析2016年10月至2019年5月首都医科大学附属北京儿童医院收治的4例PFIC患儿的临床表现、实验室检查、肝脏活检病理、基因突变、治疗及预后等临床资料.结果 4例患儿中男3例,女1例,...     

儿童自身免疫性肝炎与药物性肝病临床比较并文献复习

分析儿童自身免疫性肝炎与药物性肝病的发病机制、临床特点和预后 。方法　2006年5月至2008年4月华中科技大学同济医学院附属同济医院收治儿童自身免疫性肝炎3例、药物性肝病5例,对其病因、临床表现、实验室检查、治疗方案和预后进行回顾性分析和总结,并复习相关文献进行临床比较。结果　3例自身免疫性肝炎患儿病史6个月至3年、肝脾中至重度增大、血清IgG水平升高、自身抗体阳性、肝组织病理学检查示肝细胞水肿变性、间质及汇管区炎性细胞浸润、皮质激素治疗有效;5例药物性肝病患儿曾应用过相关药物、病史3～20 d、4例肝脏轻至中度肿大、3例急性期天冬氨酸转移酶 1000 U/L以上、2例血清IgG水平升高、自身抗体阴性、4例对症处理好转、1例淤胆型肝病皮质激素治疗有效。结论　儿童期急性或慢性严重肝病除外感染、代谢等因素者,应重点追踪患儿用药史、肝功能动态变化、免疫球蛋白、自身抗体及肝组织病理学检查,早期正确诊断和处理有利于疾病恢复,并可避免肝脏不可逆性损害。     

儿童系统性红斑狼疮合并糖尿病4例及远期随访

目的 分析儿童系统性红斑狼疮(JSLE)合并糖尿病(DM)的临床特征并文献复习。方法 收集首都儿科研究所附属儿童医院2002至2008年收治的4例JSLE合并DM患儿的临床资料,总结其临床表现、治疗和预后。结果 4例女性患儿,3例12岁,1例8岁。4例患儿风湿免疫病相关自身抗体阳性,均确诊为JSLE;4例患儿多次查血糖升高,符合DM诊断;2/4例行胰岛素刺激试验和糖耐量试验,1例提示1型糖尿病可能性大,1例2型糖尿病可能性大;3/4例DM发病急剧,出现DM酮症酸中毒的临床表现。2例确诊为甲状腺功能减低。4例患儿均予糖皮质激素或添加免疫抑制剂治疗,狼疮活动均能缓解。1例患儿失访;3例患儿分别随访1、2和5年,其中2例长期应用胰岛素治疗,1例JSLE活动期予胰岛素治疗,病情稳定后通过控制饮食维持血糖正常;血糖均控制满意,生长发育正常。结论 DM可能JSLE的一种表现。糖皮质激素可能不是引起DM的主要原因。在治疗JSLE合并DM时,糖皮质激素是主要的治疗药物。JSLE患儿应及早预防DM的发生,除监测血糖和尿糖外,还应检测胰岛素自身抗体和谷氨酸脱羧酶抗体。     

儿童C1q肾病4例报告

目的提高对儿童C1q肾病的认识。方法回顾性分析4例确诊为C1q肾病患儿的临床、病理及预后特点。结果4例患儿临床表现及病理均符合C1q肾病诊断标准,其中2例临床表现为难治性肾病,1例为镜下血尿合并蛋白尿,1例为肾炎性肾病、高血压脑病及肾功能异常。光镜下2例呈轻至中度系膜增生性肾炎表现,1例为轻微病变,1例呈硬化性肾炎。免疫荧光下2例呈满堂亮表现。电镜下均未见明显电子致密物沉积。1例镜下血尿合并蛋白尿患儿加服泼尼松1年后痊愈;1例难治性肾病予足量泼尼松并加用CTX治疗4个月,临床仍无效。1例表现为肾炎性肾病及高血压脑病患儿予泼尼松、骁悉、洛汀新等治疗,随访17个月,肾功能逐步恶化,进展至慢性肾功能不全;另1例失访。随访末患儿自身抗体及血补体均正常。结论C1q肾病是一种较少见的肾小球疾病,临床及病理表现多样,治疗效果和长期预后与临床表现、病理改变密切相关。     

2型糖尿病儿童8例临床分析及综合治疗随访

目的探讨2型糖尿病(T2DM)儿童的临床特点及诊治方法。方法对2002年5月-2008年2月本院8例住院T2DM患儿的临床资料进行回顾性分析,包括临床症状、体质量指数、血压、血脂、合并症、家族史、口服葡萄糖耐量试验、胰岛素释放试验。予饮食、运动、行为纠正和药物综合治疗及疗效随访。结果8例中仅1例有典型症状;均为肥胖儿,体质量指数为31.4±2.7;并脂肪肝7例,并原发性高血压、代谢综合征各4例,并高三酰甘油血症、黑棘皮病各3例,并酮症酸中毒1例;4例有肥胖家族史;3例通过饮食、运动和行为纠正治疗2个月后血糖有效控制,1例予胰岛素治疗1周后改为二甲双胍,余服用二甲双胍,2周后血糖有效控制。结论儿童T2DM起病隐匿,肥胖症是其重要危险因素,易并原发性高血压、脂质代谢异常、血管病变及靶器官损伤,需采取饮食、运动和药物治疗、教育及自我监控相结合的综合治疗措施。     

儿童椎管内脓肿诊治分析及文献复习

目的 提高对儿童椎管内脓肿的早期认识及治疗.方法 回顾性分析河北省儿童医院2015年收治的3例儿童椎管内脓肿患儿的临床资料,结合文献复习,分析其临床特点及诊治方法.结果 3例椎管内脓肿患儿,其中2例位于硬脊膜外,1例位于脊髓内.症状有发热、疼痛、肢体无力、感觉异常及大小便失禁.例1因先天性皮毛窦合并皮样囊肿继发脊髓内感染;例2有外伤病史,考虑血源性感染致硬脊膜外脓肿;例3原因不明,仅术后病理证实为硬脊膜外脓肿.3例患儿手术前后均给予抗生素治疗,并根据病情特点予个体化手术治疗.前2例行术中冲洗,清除脓肿并外引流,例3予完整切除病变并椎管减压,未予引流.其中例2患儿予激素冲击治疗,双下肢无力症状较术前有所改善.经及时治疗,2例硬脊膜外脓肿患儿痊愈出院;脊髓内脓肿患儿好转出院.结论 儿童椎管内脓肿临床少见,病情进展快,提高早期诊断率是提高该病治疗效果的关键;早期个体化手术配合有效、足量、足疗程抗生素治疗效果良好,病情发展至晚期时治疗效果差;激素冲击治疗可短期改善患儿症状.     

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目的分析儿童自身免疫性肝炎与药物性肝病的发病机制、临床特点和预后。方法2006年5月至2008年4月华中科技大学同济医学院附属同济医院收治儿童自身免疫性肝炎3例、药物性肝病5例,对其病因、临床表现、实验室检查、治疗方案和预后进行回顾性分析和总结,并复习相关文献进行临床比较。结果3例自身免疫性肝炎患儿病史6个月至3年、肝脾中至重度增大、血清IgG水平升高、自身抗体阳性、肝组织病理学检查示肝细胞水肿变性、间质及汇管区炎性细胞浸润、皮质激素治疗有效;5例药物性肝病患儿曾应用过相关药物、病史3～20d、4例肝脏轻至中度肿大、3例急性期天冬氨酸转移酶1000U/L以上、2例血清IgG水平升高、自身抗体阴性、4例对症处理好转、1例淤胆型肝病皮质激素治疗有效。结论儿童期急性或慢性严重肝病除外感染、代谢等因素者,应重点追踪患儿用药史、肝功能动态变化、免疫球蛋白、自身抗体及肝组织病理学检查,早期正确诊断和处理有利于疾病恢复,并可避免肝脏不可逆性损害。     

Jaundice caused by the vanishing bile duct syndrome in a child with Hodgkin lymphoma

The authors report a 5-year-old boy with Hodgkin disease and cholestatic jaundice that predated the start of treatment for his lymphoma. His clinical course was punctuated by relentless progression of jaundice, characterized by obstructive pattern liver function tests, severe pruritus, intermittent fever, and marked hypercholesterolemia with development of palmar xanthomata. The jaundice was found to be attributable to vanishing bile duct syndrome (VBDS). The extent of hepatic dysfunction precluded appropriate treatment of the lymphoma with chemotherapy, and the boy died of liver failure. In the differential diagnosis of jaundice in children with Hodgkin disease, VBDS should be considered.     

Ursodeoxycholic acid treatment in children with Byler disease

BACKGROUND: There have been a few reports of patients with Byler disease and the best medical treatment is not known. The aim of the present study is to show the effect of ursodeoxycholic acid (UDCA) on clinical, laboratory and histologic findings in children with Byler disease. METHODS: Nine children aged between 1.5 and 9 years with Byler disease were administered UDCA orally at doses of 15-20 mg/kg per day. They were followed for at least 12 months. Clinical, laboratory and histologic outcomes were evaluated after 12 months of treatment. RESULTS: Seven children presented in the first 6 months of life with itching and/or jaundice. Gamma-glutamyl transpeptidase and cholesterol levels were normal in all patients, despite severe cholestasis. With UDCA therapy, pruritus disappeared/diminished in four (44.4%) patients. The mean serum concentrations of alanine aminotransferase, aspartate aminotransferase (AST), total and conjugated bilirubin decreased, although it was significant only for AST (P = 0.01). Before treatment, all biopsy materials showed cellular/canalicular cholestasis and fibrosis. After UDCA therapy cholestasis was ameliorated. Two patients died during follow up. CONCLUSIONS: The results suggest that administration of UDCA leads to clinical and biochemical improvement in children with Byler disease. The UDCA ameliorates symptoms partially, improves the life quality of patients and may be given for as long as the disease continues.     

Clinical and pathological characteristics of Alagille syndrome in Chinese children

Background  Alagille syndrome (AS) is regarded as the most common cause of chronic cholestasis in childhood associated with specific phenotypic features in western countries. This study was undertaken to investigate the significance of AS in Chinese children with chronic cholestasis and to describe its clinical and histological features. Methods  From October 2004 to January 2007, 157 children who presented with conjugated jaundice from less than 3 months of age were admitted to a tertiary hospital in Shanghai. Investigations of the heart, spine, eyes and kidneys were conducted in 13 children who experienced prolonged cholestasis beyond 1 year of age after exclusion of biliary atresia and familial progressive intrahepatic cholestasis type 1 or 2. In patients with interlobular bile duct paucity, AS was diagnosed if 3 or more of the following 5 major features were present: cardiac murmur, posterior embryotoxon, butterfly-like vertebrae, renal abnormalities and characteristic faces. In patients without interlobular bile duct paucity or who did not receive liver biopsy, 4 or more features were required for the diagnosis. Results  Of the 13 children, 6 were diagnosed with AS at ages ranging from 1 year and 7 months to 3 years and 11 months. Jaundice was noticed in early infancy and then pruritus developed in all the 6 patients, of whom 5 presented with acholic stool and 4 had been misdiagnosed as having presumed biliary atresia by hepatobiliary scintigraphy or laparoscopic cholangiography. Biochemical examinations demonstrated increased concentration of total bile acid and hyperlipidemia. Interlobular bile duct paucity was demonstrated histologically in 5 patients who received liver biopsy. Vertebral abnormalities, heart murmur, characteristic faces and failure to thrive were found in all the 6 patients. Two patients had evidence of renal involvement. Micropenis, empty scrotum, and gall stone were seen in 1 patient. Conclusion  AS is also an important cause of prolonged cholestasis in Chinese children. It is difficult to differentiate AS from biliary atresia. Liver biopsy and spine X-ray may be helpful in the early detection of AS.     

18q21杂合缺失致婴儿肝内胆汁淤积症伴智能发育落后1例病例报告

目的： 报告1例18q21杂合缺失致ATP8B1缺陷病（婴儿肝内胆汁淤积症）合并皮特-霍普金斯综合征（PHS）。 方法：总结患儿的临床特征、染色体芯片和基因检查结果。 结果：男,3个月2 d,因皮肤巩膜黄染2月余就诊。体重4 kg（＜P3）。颜面、躯干和四肢皮肤轻中度黄染,巩膜中度黄染,手心和足心无黄染。血清总胆红素明显升高,以直接胆红素升高为主,ALT、AST、总胆汁酸（TBA）、甲胎蛋白（AFP）升高,谷氨酰转肽酶（GGT)和白蛋白（ALB）正常,提示为低GGT胆汁淤积症。染色体芯片分析发现,患儿18号染色体长臂（18q21.2-q21.33）缺失11.6 Mb,8号染色体短臂（8p23.2）缺失961 kb。18号染色体缺失区域包含ATP8B1及TCF4基因,可分别解释肝内胆汁淤积症和PHS表现。ATP8B1基因测序发现两个SNP,经Mutationtaster软件预测为非致病性。口服熊去氧胆酸及补充脂溶维生素,1岁龄黄疸消退,肝功能指标恢复正常。随访至2岁10个月,身高90 cm（P3~P10）,体重12 kg（P3~P10）,头围42.5 cm（＜P3）,呈特殊面容（嘴宽大,唇厚,鼻梁宽而高,鼻尖突出,下颌略微前突）,有明显的智力发育落后,便秘严重。 结论：采用染色体芯片技术和基因测序确诊了1例婴儿期肝内胆汁淤积症合并PHS病例,提示原因不明的胆汁淤积,应重视分子学诊断,常规的基因外显子测序技术可能会漏诊一些染色体片段缺失的病例,应联合使用染色体芯片技术。     

Diagnostic value of serum gamma-glutamyl transpeptidase activity in liver diseases in children.

The clinical usefulness of serum gamma-glutamyl transpeptidase (gamma GT) assay for the diagnosis of liver disease in children was assessed retrospectively in 398 children investigated from 1981 to 1986, in whom diagnosis was ascertained according to currently accepted criteria including liver histology in each case. Serum gamma GT activity was within normal limits in 10 controls, in 19 children with portal vein obstruction, and in 10 of 12 children with congenital hepatic fibrosis. Serum gamma GT was raised in all children with biliary atresia, sclerosing cholangitis, paucity of interlobular bile ducts, and alpha 1-antitrypsin deficiency with jaundice. Serum gamma GT was normal in spite of patent clinical signs of cholestasis in 3 patients with benign recurrent intrahepatic cholestasis, 1 infant with post-hemolytic neonatal cholestasis, and in 22 of 28 patients with progressive idiopathic cholestasis akin to Byler disease. In the latter group, children with raised serum gamma GT displayed extensive portal fibrosis and bile duct proliferation on liver histology, while this was not a prominent feature in children with normal serum gamma GT. These results indicate (a) the value and limits of the assay for serum gamma GT activity in children with liver disease, (b) that raised serum gamma GT may be considered a fairly reliable index of bile duct damage, and (c) that serum gamma GT may prove a useful tool in separating two forms of progressive idiopathic cholestasis, with or without bile duct involvement.     

脑腱黄瘤病1例病例报告并文献复习

目的 报道1例婴儿期确诊的脑腱黄瘤病（CTX）并文献复习,以期早期识别该病,提高胆汁淤积性疾病的认识。方法 报道1例2月龄以胆汁淤积性黄疸起病的CTX患儿的临床特征、实验室检查、尿胆汁酸质谱分析和CYP27A1基因检测结果。系统检索文献并复习已报道的类似病例,总结CTX的临床特征。结果 2月龄女婴,因“生后1周皮肤黄染”入院。血生化提示胆汁淤积性黄疸、血清TBA正常至轻度升高、GGT和TCH轻度升高,胆道探查除外胆道闭锁。尿胆汁酸质谱分析提示固醇-27-羟化酶活性缺乏,CYP27A1基因检测到致病的复合杂合突变：p.R127W(c.379C＞C/T )和p.Q116X（c.346C＞C/T）,确诊为CTX。予胆酸治疗,随访至13月龄,黄疸消退,生长发育正常,血生化指标基本正常。从PubMed数据库中检索到3例婴儿期胆汁淤积性黄疸的CTX病例报道,结合本文1例,其共同表现为2~3月龄出现的胆汁淤积性黄疸,血生化特点为TBA正常或轻度升高、GGT和TCH轻度升高。结论 婴儿期以胆汁淤积症起病的CTX报道较少。TBA正常或轻度升高、GGT和TCH轻度升高时需考虑CTX的可能,确诊通过尿胆汁酸质谱分析和CYP27A1基因检测。     

Effects of partial internal biliary diversion on long-term outcomes in patients with progressive familial intrahepatic cholestasis: experience in 44 patients

Progressive familial intrahepatic cholestasis (PFIC) is a hereditary disease characterized by cholestasis, which may cause jaundice, severe pruritus, and cirrhosis in the later stages. By the invention of biliary diversion methods, these patients were prevented from undergoing liver transplant. Using biliary diversion techniques, the entero-hepatic cycle was interrupted. This lowers the bile acid pool and resolves the pruritus. Herein, we report 44 cases of PFIC who underwent partial internal biliary diversion (PIBD) and long-term follow-up of these children. This comprises the largest case series of PIBD. All patients were diagnosed by liver biopsy as PFIC before the operation. All underwent cholecysto colic bypass by jejunal interposition due to severe pruritus unresponsive to medication. Laboratory blood tests, sonography, and physical exam were done before and after the operation once every 3 months. Besides, a questionnaire was designed to ask the patients about the symptoms after the operation, and a pruritus score was measured using the 5D-itch scale. 44 children (25 boys, 19 girls), between 1.75 and 27.5 years (at the time of this study) were followed for a median period of 54 months. Age at operation ranged from 2 months to 18 years, with a median of 29 months. Of these children, 14 were lost to follow up. Results showed a significant decrease in pruritus and sleep disturbance after the surgery (p < 0.001). Also, jaundice decreased from 82.1 before to 7.1% following the surgery. 50% of the patients became medication-free at follow-up. PIBD is a safe procedure which helps non-cirrhotic children preserve their liver function. Therefore, PIBD prevents them from undergoing liver transplant. Effective results were achieved in terms of severe pruritus and jaundice, and children were able to regain their sleep patterns. It also avoided external stoma, which is more convenient from the patient’s point of view.     

TJP2基因突变致进行性家族性肝内胆汁淤积症3例报告及文献复习

目的探讨紧密连接蛋白2(TJP2)基因变异致进行性家族性肝内胆汁淤积症(PFIC)的临床及基因特征。方法总结3例因TJP2基因变异致PFIC患儿的临床资料,并复习相关文献。结果3例患儿中女性1例、男性2例,均为婴儿期起病;临床以皮肤黄染为主要表现,伴或不伴皮肤瘙痒。血清总胆红素升高,以直接胆红素升高为主,丙氨酸氨基转移酶、天冬氨酸氨基转移酶、总胆汁酸升高,γ-谷氨酰转肽酶(GGT)正常或稍低,提示低GGT胆汁淤积症。二代基因测序发现3例患儿均存在TJP2复合杂合变异,确诊为TJP2变异引起的PFIC 4。文献复习显示,TJP2基因变异可引起PFIC、高胆烷血症、渐进非综合征性耳聋以及近视等儿童疾病。结论采用基因检测技术确诊3例TJP2基因复合杂合变异引起的PFIC 4。     

Treatment of progressive familial intrahepatic cholestasis: Liver transplantation or partial external biliary diversion

Progressive intrahepatic familial cholestasis (PFIC), previously called Byler's disease, is a syndrome in which children develop severe cholestasis progressing to biliary cirrhosis and chronic liver failure, usually during the first decade of life. Clinical features include jaundice, hepatomegaly, splenomegaly, growth retardation and severe pruritis. Laboratory tests demonstrate elevated bilirubin and bile acids, without an increase in serum gamma-glutamyl-transpeptidase or cholesterol. This study was performed to evaluate our experience with medical therapy as well as two types of surgical treatment used in children with PFIC, particularly partial external biliary diversion (PEBD) as an alternative method of therapy to liver transplantation (OLTx). Between 1979 and 1998 we have treated 46 children with PFIC (27 boys and 19 girls), aged 10 months to 19 yr (at the time of this study). Medical treatment with ursodeoxycholic (UDCA) was used in 39 patients for the period between 6 and 82 months. PEBD (cholecysto-jejuno-cutaneostomy) was performed in 16 patients, OLTx in eight children (including one after unsuccessful PEBD). Retrospective analysis of the clinical course and selected laboratory tests (bilirubin, ASPAT, ALAT, bile acids), and histopathological examinations were performed. Results of treatment were assessed by means of influence of the type of treatment on clinical symptoms, laboratory tests, progress of liver cirrhosis and hepatic failure, as well as physical development and survival. Medical therapy was effective in the long term in four (10%) of the patients resulting in clinical and biochemical normalization. Both surgical methods of therapy of PFIC, PEBD and OLTx, resulted in an 80% success rate and therefore should be used as complementary therapies. In patients before established liver cirrhosis, PEBD should be the first choice of treatment. Patients presenting with cirrhosis or after ineffective PEBD should qualify for OLTx. With this strategy most children with PIFC can be cured.