Ismail H, Kaliciński P, Markiewicz M, Jankowska I, Pawłowska J, Kluge P, Eliadou E, Kamiński A, Szymczak M, Drewniak T, Revillon Y
The Department of Pediatric Surgery and Organ Transplantation, The Children's Memorial Health Institute, Warsaw, Poland.
Pediatr Transplant. 1999 Aug;3(3):219-24. doi: 10.1034/j.1399-3046.1999.00046.x.
Progressive intrahepatic familial cholestasis (PFIC), previously called Byler's disease, is a syndrome in which children develop severe cholestasis progressing to biliary cirrhosis and chronic liver failure, usually during the first decade of life. Clinical features include jaundice, hepatomegaly, splenomegaly, growth retardation and severe pruritus. Laboratory tests demonstrate elevated bilirubin and bile acids, without an increase in serum gamma-glutamyl-transpeptidase or cholesterol. This study was performed to evaluate our experience with medical therapy as well as two types of surgical treatment used in children with PFIC, particularly partial external biliary diversion (PEBD) as an alternative method of therapy to liver transplantation (OLTx). Between 1979 and 1998 we have treated 46 children with PFIC (27 boys and 19 girls), aged 10 months to 19 yr (at the time of this study). Medical treatment with ursodeoxycholic (UDCA) was used in 39 patients for the period between 6 and 82 months. PEBD (cholecysto-jejuno-cutaneostomy) was performed in 16 patients, OLTx in eight children (including one after unsuccessful PEBD). Retrospective analysis of the clinical course and selected laboratory tests (bilirubin, ASPAT, ALAT, bile acids), and histopathological examinations were performed. Results of treatment were assessed by means of influence of the type of treatment on clinical symptoms, laboratory tests, progress of liver cirrhosis and hepatic failure, as well as physical development and survival. Medical therapy was effective in the long term in four (10%) of the patients resulting in clinical and biochemical normalization. Both surgical methods of therapy of PFIC, PEBD and OLTx, resulted in an 80% success rate and therefore should be used as complementary therapies. In patients before established liver cirrhosis, PEBD should be the first choice of treatment. Patients presenting with cirrhosis or after ineffective PEBD should qualify for OLTx. With this strategy most children with PIFC can be cured.
进行性肝内家族性胆汁淤积症（PFIC），以前称为比勒氏病，是一种综合征，患病儿童通常在生命的第一个十年内出现严重胆汁淤积，并逐渐发展为胆汁性肝硬化和慢性肝衰竭。临床特征包括黄疸、肝肿大、脾肿大、生长发育迟缓以及严重瘙痒。实验室检查显示胆红素和胆汁酸升高，而血清γ-谷氨酰转肽酶或胆固醇无升高。本研究旨在评估我们对PFIC患儿进行药物治疗以及两种手术治疗的经验，特别是部分外引流术（PEBD）作为肝移植（OLTx）替代治疗方法的经验。1979年至1998年期间，我们治疗了46例PFIC患儿（27例男孩和19例女孩），年龄在10个月至19岁之间（在本研究时）。39例患者在6至82个月期间使用熊去氧胆酸（UDCA）进行药物治疗。16例患者接受了PEBD（胆囊空肠皮肤造口术），8例儿童接受了OLTx（包括1例PEBD失败后）。对临床病程、选定的实验室检查（胆红素、天冬氨酸氨基转移酶、丙氨酸氨基转移酶、胆汁酸）以及组织病理学检查进行了回顾性分析。通过治疗类型对临床症状、实验室检查、肝硬化和肝衰竭进展以及身体发育和生存的影响来评估治疗结果。药物治疗长期对4例（10%）患者有效，使临床和生化指标恢复正常。PFIC的两种手术治疗方法，即PEBD和OLTx，成功率均为80%，因此应作为辅助治疗方法使用。对于尚未出现肝硬化的患者，PEBD应作为首选治疗方法。出现肝硬化或PEBD治疗无效的患者应符合OLTx的条件。采用这种策略，大多数PFIC患儿可以治愈。
