Sharabati Israa, Qafesha Ruaa Mustafa, Mustafa Mohamed M M, Hindawi Mahmoud Diaa, Rasras Heba, Bannoura Sami, Abdulrazzak Mohammed, Shamasneh Ibrahim
Faculty of medicine, Al-Quds University, Jerusalem, Palestine.
Medical research group of Egypt, Negida Academy, Arlington, MA, USA.
Ann Med Surg (Lond). 2024 Dec 19;87(2):953-963. doi: 10.1097/MS9.0000000000002813. eCollection 2025 Feb.
Progressive familial intrahepatic cholestasis (PFIC) is an uncommon disorder inherited in an autosomal recessive manner. PFIC type 3 (PFIC-3) results from mutations in the ABCB4 gene. This type typically advances from chronic cholestasis, which may occur with or without jaundice.
A 16-year-old female presented with abdominal pain, later developing liver complications. Genetic testing revealed a novel ABCB4 gene mutation linked to cholestasis. Diagnosed with PFIC-3, she was treated with ursodeoxycholic acid (UDCA) and vitamins, leading to improved liver function. Despite uncertain clinical significance of the mutation, predictions suggested it was damaging. Her liver function fully recovered, and she remained in remission during follow-up visits.
PFIC3 is a rare, autosomal recessive disorder causing cholestasis and liver damage. Our study reported a young female with a novel ABCB4 mutation who responded well to UDCA. Diagnosis relies on comprehensive evaluation, and treatment options include UDCA, surgery, and liver transplantation.
PFIC-3 gene must be considered while evaluating a young female with symptoms of cholestasis.
进行性家族性肝内胆汁淤积症（PFIC）是一种以常染色体隐性方式遗传的罕见疾病。PFIC 3型（PFIC-3）由ABCB4基因突变引起。这种类型通常从慢性胆汁淤积发展而来，可能伴有或不伴有黄疸。
一名16岁女性出现腹痛，随后出现肝脏并发症。基因检测发现一种与胆汁淤积相关的新ABCB4基因突变。她被诊断为PFIC-3，接受了熊去氧胆酸（UDCA）和维生素治疗，肝功能得到改善。尽管该突变的临床意义尚不确定，但预测表明它具有损害性。她的肝功能完全恢复，随访期间仍处于缓解状态。
PFIC3是一种罕见的常染色体隐性疾病，可导致胆汁淤积和肝损伤。我们的研究报告了一名携带新ABCB4突变的年轻女性，她对UDCA反应良好。诊断依赖于全面评估，治疗选择包括UDCA、手术和肝移植。
在评估有胆汁淤积症状的年轻女性时，必须考虑PFIC-3基因。
