摘要
成人先天性肝外门体静脉分流(CEPS)在临床上罕见,容易误诊,特别是合并肝脏肿瘤,给临床诊疗带来困难。本文报告1例成人无症状CEPS合并结节性肝脏肿瘤患者的诊治经过,探讨该病的临床特点及治疗方法。
先天性肝外门体静脉分流(congenital extrahepatic portosystemic shunt,CEPS)是一种罕见的先天性门静脉血管发育异常所致疾病,由John Abernethy于1793年首次报
患者 男,47岁。因“发现肝脏占位性病变2个月”于2023年10月23日入院。患者2个月前因“糖尿病”于外院就诊发现肝功能异常,进一步彩超检查提示肝脏内低回声结节,外院未进一步诊治,为求进一步诊治前来江苏省人民医院就诊。既往身体健康,有饮酒史20余年,吸烟史20余年,1周前戒烟戒酒。曾有甲型肝炎病史。2年前发现有糖尿病、肝功能异常,应用胰岛素治疗糖尿病[德谷门冬双胰岛素注射液(诺和佳):早10 U、中8 U、晚8 U],肝功能异常未重视。无手术及外伤史。
入院时患者神志清楚,精神正常,面容正常,皮肤、巩膜轻度黄染,肝掌及蜘蛛痣,无腹壁静脉曲张。全腹部柔软,无压痛及反跳痛,未触及包块,腹水征阴性。双下肢无水肿。外院肝胆彩超检查(2023年10月10日)提示:脂肪肝,胆囊壁毛糙,脾大,胃底静脉曲张。入院后血常规:白细胞6.22×1
入院后肝胆彩超(2023年10月23日)提示:肝S5、S8段低回声,大小分别为21 mm×13 mm、20 mm×12 mm,门静脉主干内径9 mm,门静脉主干及左右支血流方向为出肝血流,流速为24 cm/s。胰腺上方见一条迂曲增宽的静脉,宽约21 mm,与门静脉及左肾静脉相通,肝脏饱满,肝静脉纤细,脾肿大(

图1 肝胆彩超 A:肝静脉纤细;B:门静脉血流为出肝血流

图2 上腹部MRI A:肝十二指肠韧带内无门静脉,肝动脉代偿性扩张;B:肠系膜上静脉与脾静脉汇合后由异常粗大的静脉汇入左肾静脉;C:动脉期S5段结节;D:动脉期S8段结节
结合病史、查体及检查,诊断:肝脏占位性(考虑肝癌可能性大)、CEPS、糖尿病、肝功能异常。为进一步明确诊断和治疗给予肝动脉造影+栓塞术,术中未见明显肿瘤染色灶,以微导管超选插入肝右前动脉,缓慢注入超液化碘油3 mL。由于介入治疗不满意,经多学科联合会诊讨论,患者肝脏S5、8段结节考虑恶性变,ICG R-15 38.9%,不能耐受大范围肝切除,考虑对于<2 cm结节穿刺假阴性率较高,且容易引起出血、肿瘤播散等并发症,遂于全麻超声引导下直接行肝S5、8段病灶微波消融术(60 W,4 min)(

图3 肝S5、S8段病灶微波消融术 A-B:S5段肿瘤超声下定位、消融;C-D:S8段超声定位、消融;E-F:S5、8段消融后肿瘤组织液化坏死
CEPS又称Abernethy畸形,是一种先天性门静脉发育异常导致的门静脉入肝血流缺失或部分缺失,全部门静脉血流或部分门静脉血流在肝外进入腔静脉系统。根据门静脉缺如和分流程度、分流部位及肝内门静脉发育等情况,目前已有多种分型方法(
分型 | 分型依据 | 分型方法 |
---|---|---|
Morgan分型 | 门静脉缺如和分程度 | Ⅰ型:入肝门静脉全部缺如Ⅰa型为肠系膜上静脉和脾静脉不汇合,分别进入腔静脉系统;Ⅰb型为两者汇合后再进入腔静脉系统;Ⅱ型为部分门静脉血流经异常静脉分支直接汇入腔静脉系统 |
Lautz分型 | 门静脉缺失情况 | Ⅱ型分为Ⅱa型,即右侧或左侧门静脉分支流入腔静脉系统;Ⅱb型,即门静脉主干与肝外腔静脉系统的异常分流 |
Kobayashi分型 | 分流部位 | A型:门静脉流入下腔静脉;B型:门静脉流入肾静脉;C型:门静脉流入髂静脉 |
Kannzawa分型 | 肝内门静脉发育情况 | 轻度型:肝内门静脉系统均匀分布,清晰可见;中度型:肝内门静脉系统轻度可见;重度型:肝内门静脉系统几乎或完全看不到 |
CEPS的发生没有明显地域分布,全世界均有发病,新生儿发病率约1/30 00
CEPS的临床表现差异较
并发症 | 临床表现 |
---|---|
分流道高压 | 上消化道出血、痔静脉出血、门脉性肺动脉高压等 |
肝功能异常 | 转氨酶升高、胆红素升高、凝血功能障碍、胆汁淤积等 |
代谢异常 | 高血氨、肝性脑病、血糖异常、肾小球肾炎、新生儿半乳血症等 |
其他器官发育异常 | 间隔缺损、房间隔缺损、动脉导管未闭、卵圆孔未闭、胆道闭锁、胆总管囊肿、骨骼异常、肠道旋转不良等 |
肿瘤性病变 | 结节性再生增生、局灶性结节性增生、肝腺瘤、肝细胞癌、肝母细胞瘤等 |
由于CEPS的临床表现差异较大,缺乏特异性,因此早期诊断比较困难,容易误诊误
CEPS的治疗目前尚未形成统一的共识,一般根据分流的分型、年龄、症状严重程度及合并症等情况确定治疗方案。对于无症状的患者可保守治疗,如限制蛋白质摄入、保肝、口服乳果糖、忌酒等,1年2次肝功能检查和1年1次肝脏影像学检
CEPS是一种罕见疾病,目前治疗方法尚无共识。对于合并肝脏肿瘤的患者,肿瘤的消融治疗是一种安全可行的方法。因此,在治疗方案的选择方面,应综合患者年龄、分流类型、疾病严重程度以及合并症情况而采用个体化的诊疗方案。
作者贡献声明
李力负责临床资料的搜集及起草文章;吴琛负责临床资料和数据的质控;朱永花负责临床资料、数据的搜集和图片制作;姚爱华负责文章的设计,对文章专业性内容做批评性审阅和修改。
利益冲突
所有作者均声明不存在利益冲突。
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