Budd-Chiari综合征合并肝肺综合征1例并文献复习

Budd-Chiari syndrome with hepatopulmonary syndrome:a case report and literature review

目的总结Budd-Chiari综合征合并肝肺综合征(HPS)患儿的临床特征及预后。方法回顾性分析2016年12月郑州大学第一附属医院儿科收治的1例Budd-Chiari综合征合并HPS患儿的临床资料。以“Budd-Chiari综合征”“肝肺综合征”“Budd-Chiari syndrome”“hepatopulmonary syndrome”为关键词分别在中国知网、万方数据库、中国生物医学文献数据库、PubMed数据库进行检索(建库至2023年7月),结合本例资料,总结Budd-Chiari综合征合并HPS患儿(<18岁)的临床特征、诊疗经过及预后。结果患儿,男,13岁,因“发绀、活动后胸闷6个月,皮肤黄染1周”入院。入院体格检查可见全身皮肤黏膜、巩膜轻度黄染,口唇、眼周、四肢末端发绀。辅助检查可见肝功能及动脉血气分析异常,总胆红素53μmol/L,直接胆红素14μmol/L,间接胆红素39μmol/L;氧分压54 mmHg(1 mmHg=0.133 kPa),二氧化碳分压31 mmHg,肺泡动脉血氧梯度57 mmHg;腹部CT静脉造影示Budd-Chiari综合征(肝静脉型)、肝硬化、门静脉高压;增强经胸超声心动图造影(CE-TTE)阳性。患儿经对症支持治疗后院外氧疗,随访至2023年3月,低氧血症无明显改善,日常活动受限。文献复习符合检索条件中文文献0篇,英文文献3篇,结合本例患儿共4例,3例首诊原因为呼吸困难、发绀或低氧血症,1例不详。2例因呼吸系统症状就诊诊断Budd-Chiari综合征合并HPS,2例HPS分别发生于Budd-Chiari综合征确诊1.5和8.0年。CE-TTE阳性2例,肺灌注显像阳性2例。2例患儿行肝移植,呼吸功能恢复良好;吸氧治疗1例,低氧血症无改善;等待肝移植1例。结论Budd-Chiari综合征合并HPS早期起病隐匿,临床表现以呼吸困难、发绀多见,早期行CE-TTE明确肺内血管扩张可减少误诊。肝移植有助于改善预后。

Objective To summarize the clinical features and prognosis of Budd-Chiari syndrome with hepatopulmonary syndrome(HPS)in children.Methods The clinical data of a child who had Budd-Chiari syndrome with HPS treated at the Department of Pediatrics of the First Affiliated Hospital of Zhengzhou University in December 2016 was analyzed retrospectively.Taking"Budd-Chiari syndrome"and"hepatopulmonary syndrome"in Chinese or English as the keywords,literature was searched at CNKI,Wanfang,China Biomedical Literature Database and PubMed up to July 2023.Combined with this case,the clinical characteristics,diagnosis,treatment and prognosis of Budd-Chiari syndrome with HPS in children under the age of 18 were summarized.Results A 13-year-old boy,presented with cyanosis and chest tightness after activities for 6 months,and yellow staining of the skin for 1 week.Physical examination at admission not only found mild yellow staining of the skin and sclera,but also found cyanosis of the lips,periocular skin,and extremities.Laboratory examination showed abnormal liver function with total bilirubin 53μmol/L,direct bilirubin 14μmol/L,and indirect bilirubin 39μmol/L,and abnormal blood gas analysis with the partial pressure of oxygen of 54 mmHg(1 mmHg=0.133 kPa),the partial pressure of carbon dioxide of 31 mmHg,and the alveolar-arterial oxygen gradient of 57 mmHg.Hepatic vein-type Budd-Chiari syndrome,cirrhosis,and portal hypertension were indicated by abdominal CT venography.Contrast-enhanced transthoracic echocardiography(CE-TTE)was positive.After symptomatic and supportive treatment,this patient was discharged and received oxygen therapy outside the hospital.At follow-up until March 2023,there was no significant improvement in hypoxemia,accompanied by limited daily activities.Based on the literature,there were 3 reports in English while none in Chinese,3 cases were reported.Among a total of 4 children,the chief complaints were dyspnea,cyanosis,or hypoxemia in 3 cases,and unknown in 1 case.There were 2 cases diagnosed with Budd-Chiari syndrome with HPS at the same time due to respiratory symptoms,and 2 cases developed HPS 1.5 years and 8.0 years after the diagnosis of Budd-Chiari syndrome respectively.CE-TTE was positive in 2 cases and pulmonary perfusion imaging was positive in 2 cases.Liver transplantation was performed in 2 cases and their respiratory function recovered well;1 case received oxygen therapy,with no improvement in hypoxemia;1 case was waiting for liver transplantation.Conclusions The onset of Budd-Chiari syndrome with HPS is insidious.The most common clinical manifestations are dyspnea and cyanosis.It can reduce misdiagnosis to confirm intrapulmonary vascular dilatations with CE-TTE at an early stage.Liver transplantation is helpful in improving the prognosis.