Ganschow Rainer, Weigert Alexander, Katzer David
Department of Pediatrics, University Hospital Bonn, Bonn, DEU.
Cureus. 2025 Jul 22;17(7):e88529. doi: 10.7759/cureus.88529. eCollection 2025 Jul.
Alagille syndrome (ALGS) is a rare, autosomal dominant disorder characterized by cholestasis and progressive liver disease that can lead to liver transplantation or death. Liver transplant recipients with ALGS can face chronic graft dysfunction and refractory pruritus that significantly impairs quality of life. We present the case of a 16-year-old male patient with ALGS who developed severe pruritus 13 years after receiving a liver transplant. Despite conventional therapies, his symptoms persisted, accompanied by elevated serum bile acids. Treatment with maralixibat, an ileal bile acid transporter inhibitor, resulted in complete resolution of pruritus within two months as well as a substantial reduction in serum bile acids. No adverse events were reported. This case offers real-world evidence of the effectiveness of maralixibat in managing cholestatic pruritus in a patient with ALGS and early-stage chronic graft dysfunction, highlighting its potential as a therapeutic option in this challenging patient population.
阿拉吉列综合征（ALGS）是一种罕见的常染色体显性疾病，其特征为胆汁淤积和进行性肝病，可导致肝移植或死亡。患有ALGS的肝移植受者可能面临慢性移植物功能障碍和难治性瘙痒，这会严重损害生活质量。我们报告了一例16岁男性ALGS患者的病例，该患者在接受肝移植13年后出现严重瘙痒。尽管采用了传统疗法，但其症状仍持续存在，并伴有血清胆汁酸升高。使用回肠胆汁酸转运体抑制剂maralixibat进行治疗，在两个月内瘙痒完全缓解，血清胆汁酸也大幅降低。未报告不良事件。该病例提供了现实世界的证据，证明maralixibat在治疗ALGS和早期慢性移植物功能障碍患者的胆汁淤积性瘙痒方面有效，凸显了其在这一具有挑战性的患者群体中作为治疗选择的潜力。
