新生儿肝外胆道囊性病变的诊断与治疗

目的了解新生儿肝外胆道囊性病变的不同类型及其临床特点，掌握其鉴别诊断的要点。方法分析9例新生儿肝外胆道囊性病变患儿的临床表现、肝功能、B超、CT、光镜、术中胆道造影的资料。结果本组胆道闭锁和新生儿胆总管囊肿女性多见，以梗阻性黄疸为主要表现，肝功能检查结果提示梗阻性黄疸。二者肝脏的组织学改变相似。但B超和CT检查发现，胆道闭锁组囊肿与胆囊大小均小于胆总管囊肿组。术中胆道造影显示，Ⅰ型胆道闭锁组肝内胆管变形、连续性中断；Ⅲ型胆道闭锁肝内胆管无法显示；胆总管囊肿组肝内胆管形态正常或略有被动扩张。结论多种胆道畸形都可以表现为新生儿肝外胆道囊肿，B超和术中胆道造影可以帮助鉴别这类疾病并且为治疗提供帮助。     

新生儿肝外胆管囊性病变的临床与病理特征

目的　了解新生儿不同类型肝外胆道囊性病变的临床表现与病理特征。方法　对 2 2例新生儿肝外胆道囊性病变 [Ⅰ型胆道闭锁 (BA) 4例 ,Ⅲ型BA 1例 ,胆总管囊肿 (CC) 17例 ]患儿临床表现、肝功能、B超、CT、光镜及电镜特征进行比较。结果　BA与新生儿CC均好发于女童 ,以梗阻性黄疸为主要表现 ,肝功能检查结果符合梗阻性黄疸的肝功能改变。二者肝脏组织学改变 (光镜与电镜 )也可能相似。但B超与CT检查发现 ,BA组囊肿与胆囊大小均小于CC组 (P均 <0 .0 5 )。术中胆道造影显示ⅢBA型组肝外胆管囊肿终止于肝门处 ,肝内胆管树无法显示 ;Ⅰ型BA组肝内胆管树变形、连续性中断且有左右肝管狭窄 ;而CC组肝内胆管树形态正常。结论　新生儿肝外胆道囊性病变可能是多种胆道疾病的局部表现 ,术中造影可有效鉴别这些疾病 ,并能为治疗方法的选择提供可靠依据     

ECT对诊断新生儿胆道闭锁的临床意义

先天性胆道闭锁胆道闭锁是新生儿期一种严重黄疸疾病 ,它与新生儿肝炎鉴别很重要 ,前者必须手术治疗 ,而后者的治疗以保肝治疗为主。胆道闭锁早期的临床症、实验室检查、肝脏病理改变等方面 ,与新生儿肝炎颇相似 ,故两者的早期鉴别诊断十分困难。我们应用单光子发射型计算机断层照机机 ( Singlephoton emission computed tomography,SPECT,ECT)辅助诊断 2例胆道闭锁 ,报道如下。病例报告例 1男 ,2月 ,因皮肤黄染 2个月而入院。生后 3天起全身皮肤出现黄染 ,以后持续不退 ,且黄疸逐渐增深 ,大便呈灰白色 ,尿色黄。经强的松、苯巴比妥及保…     

Notch配体、受体在小儿胆道畸形肝组织中的表达及意义

目的 探讨Notch信号通路在小儿胆道畸形发病机制中的作用.方法 收集23例胆道畸形患儿临床资料(胆道闭锁12例,胆总管扩张11例),术中取肝脏组织样本;9例正常肝脏组织样本作为正常对照.免疫组化方法和实时荧光定量PCR方法检测肝脏组织中的Notch配体、受体的表达分布和相对表达量.结果 Jag1在胆道闭锁增生胆管表达明显增强,Jag2在各组门管区表达为阴性;荧光定量PCR显示:胆道闭锁组及胆总管扩张组Jag1 mRNA的表达明显高于对照组(P＜0.01);Jag2 mRNA的表达在三组问差异无统计学意义(P＞0.05).Notch1、Notch 2在对照组及胆总管扩张组主要表达于肝细胞和成熟胆管细胞,胆道闭锁组胆管细胞无阳性表达.Notch 3在胆道闭锁汇管区新生血管、基质中有较为明显的表达.荧光定量PCR显示:Notch1、Notch 2mRNA的表达在三组间差异无统计学意义(P＞0.05),胆道闭锁组Notch 3 mRNA的表达高于对照组(0.013±0.003比0.009±0.003,P＜0.01).Notch 4表达为阴性.结论 胆道闭锁肝脏组织Notch配体、受体表达异常,增生胆管细胞Jag1的过表达及Notch受体表达缺陷可能参与了胆道闭锁的病理过程.     

Notch配体、受体在小儿胆道畸形肝组织中的表达及意义

Objective To investigate the expressions of Notch ligands and its receptors in the liver tissues of the pediatric patients with bile duct malformations. Methods Twenty three patients including 12 patients with biliary atresia and 11 with choledochal cyst were enrolled in this study. The patients' liver specimens were harvested during surgery. Immunohistochemistry and real-time fluorescent quantitative RT-PCR were performed to examine the expression of Notch ligands and its receptors in the liver tissues. Nine health liver tissues served as controls. The clinical data of these patients were also collected and analyzed. Results The expression of Jag1 significantly increased in the proliferating ductules of the patients with biliary atresia. Jag2 was negative in the portal area of all patients. The mRNA of Jag1 of the patients with bile duct malformations was higher than that of controls (P＜0. 01). No difference of the mRNA of Jag2 was found between the bile duct malformation patients and the controls (P＞0. 05). The expression of Notch 1 and Notch 2 was mostly found in hepatocytes and bile ductules of the controls' and the choledochal cyst patients' liver tissues. No Notch 1 and Notch 2 expression was found in proliferating ductules of the biliary atresia patients. Notch 3 was expressed in the neovascularization and mesenchyme of the biliary atresia patients. There was no significant difference of Notch1 and Notch 2 mRNA between the biliary atresia patients, choledochal cyst patients and controls (P＞0. 05). Notch 3 mRNA of biliary atresia patients was higher than that of the controls (P＜0. 01). Notch 4 expression was undetectable in all patients. Conclusions The expression patterns of Notch ligands and its receptors are changed in the patients with biliary atresia, which may contribute to the pathogenesis of biliary atresia.     

孕期肝门区囊肿：囊肿型胆道闭锁与胆总管囊肿的鉴别

胆道闭锁(biliary atresia, BA)是新生儿期常见梗阻性黄疸的病因。按梗阻的部位及程度分为3型, 其中Ⅰ型囊肿型胆道闭锁(cystic biliary atresia, CBA)是少见但又特殊的一种亚型, 其在临床表现、影像学检查等方面都与先天性胆总管囊肿(choledochal cyst, CC)有着相似的表现, 两者也是产前诊断最常发现的肝门区囊性病变, 但因两者的治疗方案及预后有着显著的差异, 因此, 迄今为止两者的鉴别仍然是临床医生需要破解的难题, 本文将对目前已有的相关研究成果进行综述。     

HEX基因Exonl 24G/A多态性与胆道畸形发病的相关性

目的 检测胆道畸形患儿HEX基因的单核苷酸多态性(SNPs),探索HEX基因与胆道闭锁(BA)和胆总管囊肿(CBD)发病的相关性.方法 BA患儿117例,其中男72例,女45例,年龄1～6个月(1～2个月12例,2～3个月42例,大于3个月63例).CBD患儿32例,其中男6例,女26例,年龄1个月～13岁.另取门诊正常体检儿童(无畸形)51例为对照组.提取外周血白细胞DNA,对HEX基因进行PCR扩增并测序,然后对HEX基冈序列多态性进行分析,探讨其与胆道畸形发病的相关性.结果 24例存在Exonl 24G/A多态性位点(BA组19例,其中含AA等位基因纯合子型4例;CBD组3例,对照组2例,两组均为GA条合型);18例存在Exon3-26T/G多态性位点(BA组12例,CBD组2例,对照组4例,三组各含GG等位基因纯合子型1例,其余为TG杂合型).分别采用卡方检验及Fisher精确概率法进行统计学分析,发现Exonl 24G/A多态性位点与BA发病有高度相关性(OR=4.75,95%可信区间1.0632～21.2207,P=0.026),而该基因Exon多态性与CBD发病无明显统计学意义(P>0.05).结论 HEX基因Exonl 24G/A多态性位点可能影响基因翻译,进而影响肝胆系统的发育,与BA发病具有高度相关性.     

胆道闭锁的诊断及治疗新进展

胆道闭锁的诊断基于临床表现、筛查及相关化验检查。近年来血液标志物的研发和超声检查手段的提高使得胆道闭锁的就诊年龄普遍提前,其中最具代表性的突破为血清基质金属蛋白酶-7,以其高灵敏度和特异度超越了现有血生化指标的诊断效能,并正在向临床推广应用;肝弹性成像技术在诊断及预后判断方面也能在很大程度上提高诊断效能。手术仍是治疗胆道闭锁的唯一方法,当前序贯手术治疗方案首先是Kasai肝门空肠吻合术,加以抗感染、减轻炎症等药物治疗方案,而Kasai手术失败及肝功能丧失的患者,最终需要肝移植挽救生命。因此胆道闭锁目前的研究重点内容为早期诊断标志物,以及特异性靶向性、防止进行性肝纤维化药物的研发。该文将综述目前胆道闭锁的诊断方法和治疗措施,并探讨潜在的研究方向。 ［中国当代儿科杂志,2022,24（11）：1269-1274］     

Clinical and pathological characteristics of cystic lesions of extrahepatic bile duct in neonates

Aim: To investigate the differences in clinical and pathological manifestations between biliary atresia with extrahepatic biliary cyst and choledochal cyst in neonates. Methods: Symptoms and clinical signs in 5 neonates with biliary atresia with extrahepatic biliary cyst (4 of type I and 1 of type III) and 17 neonates with choledochal cyst were recorded. The levels of serum alkaline phosphatase, bilirubin, direct bilirubin, transaminase, gamma-glutamyl transpeptidase were analysed. Width and length of gallbladder and choledochal cyst were measured on B-mode ultrasound before surgery. Intrahepatic or extrahepatic biliary ducts were visualized with intraoperative cholangiography. The pathologic features in specimens of the liver were studied with light- and electron transmission microscopy. Results: All malformations occurred more commonly in girls, and obstructive jaundice was the main manifestation in both groups. Laboratory tests showed similar results for all patients in this study. With regard to pathological features, no significant difference was seen in either light microscopy or transmission electron microscopy, but it was shown with ultrasound that the length and width of the cysts and the gallbladder in neonates with biliary atresia were all shorter than the measurements in patients with choledochal cyst. The intrahepatic bile ducts could not be visualized on intraoperative cholangiography in type III biliary atresia. Deformation of the biliary ducts within the liver and stricture of the portal bile duct were the predominant features in type I biliary atresia, while the bile duct within the liver was normal or dilated in neonates with choledochal cyst.

Conclusions: Cystic lesions of the extrahepatic bile duct might be a common manifestation of biliary atresia and choledochal cyst. Intraoperative cholangiography is a precise and effective technique in the differential diagnosis of those lesions and helps decide on the most rational method of treatment.     

Nonrefluxing biliary appendicoduodenostomy for choledochal cyst

A new technique of biliary appendicoduodenostomy along with an antireflux procedure was used for the treatment of a choledochal cyst, with a satisfactory result.     

The expression of interleukin-33 in the serum and liver tissue of the patients with biliary atresia

目的 研究胆道闭锁(BA)血清及肝脏组织中白介素-33(IL-33)的表达及意义.方法 选取18例BA与12例无黄疸症状且肝功能正常的胆总管囊肿(CC)患儿血清和肝脏标本进行对比研究.应用酶联免疫吸附试验检测血清中IL-33的表达水平.荧光定量RT-PCR技术和免疫印迹技术分别检测肝脏组织中IL-33 mRNA及蛋白表达水平.结果 BA组血清中IL-33的表达(791.0±22.22)pg/ml明显高于CC组的(607.1±20.68) pg/ml(P＜0.0001);并与γ-谷氨酰转移酶呈正相关(r=0.629,P=0.005).BA组肝组织中IL-33 mRNA表达0.0420±0.0061明显高于CC组的0.0220±0.0027(P=0.0181).BA组肝组织中IL-33蛋白表达0.4683±0.0188亦明显高于CC组的0.3433±0.0293(P=0.0137).结论 IL-33在BA组血清及肝组织中表达均明显升高,可能在BA炎症发生及发展过程中发挥重要作用,值得进一步研究.     

A case of biliary atresia with cystic dilatation of the extrahepatic bile duct and polysplenia syndrome

A 79-day-old girl presented with jaundice and acholia. Laboratory findings disclosed elevated levels of bilirubin, transaminases, and gamma-glutamyl transferase. A chest X-ray film showed dextrocardia. A computed tomographic scan revealed a cystic mass at the porta hepatis, multiple spleens in the right side of the abdomen, and absence of the inferior vena cava. Under the diagnosis of biliary atresia (BA) (I-cyst) associated with polysplenia syndrome, a hepatic portojejunostomy was performed at 80 days of age. The postoperative course was uneventful, and the jaundice cleared. Although the occurrence of associated anomalies in BA is rare, polysplenia is most commonly seen, and its incidence is reported to be 2% to 10%. Patients with BA and polysplenia usually have a poor prognosis, however, this patient may have a good prognosis due to uneventful recovery from the jaundice. Accepted: 30 August 1999     

Ectopic pancreas associated with a choledochal cyst and extrahepatic biliary atresia

Two children with incidentally-diagnosed ectopic pancreatic tissue in the jejunum at surgery for extrahepatic biliary atresia (EHBA) and choledochal cyst (CC) are reported. No case has been reported in the literature describing the association of a CC with ectopic pancreas, and only one case of EHBA associated with ectopic pancreas has been reported. We believe that incidentally-detected ectopic pancreatic tissue should be excised, even though the patient is symptom-free, in order to prevent the risk of serious complications due to either the mass effect or the potential for acute pancreatitis, cystic degeneration, or malignant transformation at a later date. Accepted: 12 December 2000     

Kasai术后肝内胆管囊性扩张的诊治与预后

目的 总结胆管闭锁术后肝内胆管囊性扩张的诊治经验,分析其对患儿预后的影响.方法 1998年6月至2008年3月,对胆管闭锁行葛西手术的患儿进行追踪随访.通过超声检查,发现8例患儿存在肝内胆管扩张.其中3例再行MRI检查,6例再行CT平扫加增强检杳以明确诊断.此8例患儿术后均有不同程度胆管炎症状.5例行PTCD显示肝内胆管囊性扩张.3例患儿行囊肿与空肠胆支再吻合术,2例患儿仪行PTCD置管引流,2例患儿暂未予任何处理.结果 3例经手术治疗的患儿,术后黄疸消退或减轻.仅行PTCD的患儿肝内胆管扩张长期存在.结论 对反复发作的胆管炎应定期行超声检查,尽早发现肝内囊肿;对肝内胆管囊性扩张,无论其影像学分型如何,应根据其具体临床表现进行相应的积极治疗;PTCD无法长期放置,仅是暂时性的治疗,但对手术时寻找囊肿有指示作用,使手术时囊肿的定位相对容易;囊肿的大小、位置与门静脉的关系,压迫的时间、治疗是否及时有效都可影响患儿的预后.     

Type I biliary atresia without extrahepatic biliary cyst

Currently, magnetic resonance cholangiography (MRC) is used for the differentiation of biliary atresia (BA) from other causes of infantile cholestasis. The authors present a case of type I BA without an extrahepatic biliary cyst in a 2-month-old girl. MRC clearly visualized the patency of the gallbladder, cystic duct, and hepatic ducts with disappearance of the common bile duct. Intraoperative cholangiography demonstrated a cloudy appearance of the intrahepatic bile ducts, confirming the diagnosis of type I BA. We believe that this is the first reported case of type I BA without an extrahepatic biliary cyst diagnosed by MRC.