Table 1_Odevixibat treatment in a child with hypoplastic left heart syndrome and severe cholestatic pruritus: a case report.docx

Liver-related abnormalities are commonly observed in patients with congenital heart disease, and these may lead to secondary manifestations such as pruritus. Odevixibat is an ileal bile acid transporter inhibitor under investigation for the treatment of cholestatic liver diseases. Here, we describe the effects of odevixibat treatment in a pediatric patient with congenital heart disease and severe cholestatic pruritus. A 2-year-old male with Kleefstra syndrome, hypoplastic left heart syndrome, and a history of Giessen procedure and biventricular correction surgery presented to the pediatric cardiology and hepatology outpatient clinics at University Children's Hospital Bonn. Portal hypertension was evident on imaging, and the patient was experiencing severe itching attacks that did not respond to treatment with naltrexone, ursodeoxycholic acid, dimetindene, or rifampicin. Sleep and quality of life were poor. Treatment with odevixibat was initiated off label due to refractory pruritus and elevated serum bile acids. Improvements in pruritus and sleep occurred rapidly with odevixibat and were sustained for the duration of treatment. The patient's serum bile acids decreased from 111 μmol/L before treatment with odevixibat to 24 μmol/L within 1 month of initiating therapy. Relief from pruritus had positive effects on psychomotor development and quality of life. Mild diarrhea lasting 2 days was reported by the patient's mother. In this case report, odevixibat was effective and well tolerated. Together with those of previous studies in patients with progressive familial intrahepatic cholestasis and Alagille syndrome, these results suggest that odevixibat warrants further study as a potential treatment option for patients with cholestatic pruritus of diverse etiologies.

先天性心脏病患者常出现肝脏相关异常，此类异常可引发瘙痒等继发性表现。奥维昔巴特（Odevixibat）是一种回肠胆汁酸转运体抑制剂，目前正处于治疗胆汁淤积性肝病的研发阶段。本病例报告旨在探讨奥维昔巴特治疗1例合并先天性心脏病与重度胆汁淤积性瘙痒的儿科患者的疗效。该患儿为2岁男性，患有克莱夫斯特拉综合征（Kleefstra syndrome）、左心发育不良综合征（hypoplastic left heart syndrome），曾接受吉森手术（Giessen procedure）及双心室矫正术，前往波恩大学儿童医院儿科心血管科与肝病科门诊就诊。影像学检查显示存在门静脉高压，患儿出现重度瘙痒发作，经纳曲酮、熊去氧胆酸、二甲茚定及利福平治疗均无效，睡眠质量与生活水平均较差。鉴于患儿存在难治性瘙痒及血清胆汁酸水平升高，遂超说明书启用奥维昔巴特进行治疗。启用奥维昔巴特治疗后，患儿瘙痒与睡眠状况迅速改善，并在整个治疗期间持续保持良好状态。治疗启动后1个月内，患儿血清胆汁酸水平从治疗前的111 μmol/L降至24 μmol/L。瘙痒症状的缓解对患儿的精神运动发育与生活质量均产生积极影响。患儿家属报告出现持续2天的轻度腹泻。本病例报告显示，奥维昔巴特治疗有效且耐受性良好。结合既往针对进行性家族性肝内胆汁淤积症与阿拉基尔综合征患者的研究结果，本次研究结果表明，奥维昔巴特作为潜在治疗手段，有望用于治疗不同病因引发的胆汁淤积性瘙痒，值得开展进一步研究。