Clinic of Gastroenterology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Gastroenterology and Endoscopy Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico; Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.
Clinic of Gastroenterology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
United European Gastroenterol J. 2016 Aug;4(4):562-9. doi: 10.1177/2050640615616012. Epub 2015 Oct 30.
The natural history of pediatric-onset primary sclerosing cholangitis (PSC) and overlap with autoimmune hepatitis (PSC/AIH) is poorly known.
The aim of this study was to evaluate the clinical outcome of patients with pediatric-onset disease in a tertiary referral center.
We traced 33 patients (median age at diagnosis 16 years), with PSC or PSC/AIH in cholangiography and liver histology diagnosed between December 1993 and 2011, at Helsinki University Hospital. Diagnostic procedures and long-term follow-up were reassessed until the end of December 2013.
PSC was confirmed in all 33 patients; 19 of them had an overlap with AIH. At diagnosis, three of 33 had cirrhosis. Inflammatory bowel disease (IBD) was associated in 76% of the patients, mostly ulcerative colitis (70%); treatment of IBD being a minor determinant of the clinical outcome of liver disease. In the last follow-up (median nine years), all patients were alive, and no malignancy occurred. Most patients (91%) were on ursodeoxycholic acid and 12 PSC/AIH patients on immunosuppression. Endoscopic retrograde cholangiography during follow-up showed a progression of intra-hepatic disease in 12 patients (36%). Four patients (12%) had undergone liver transplantation, and one was listed; no recurrence of the disease in the graft was seen.
The clinical course and outcome of pediatric-onset PSC and PSC/AIH seem to be favourable in the majority of patients until early adulthood. In about one-third of patients, however, PSC is progressive, challenging the current treatment guidelines and warranting further studies on disease pathogenesis.
儿童发病原发性硬化性胆管炎（PSC）的自然病史及其与自身免疫性肝炎（PSC/AIH）的重叠情况知之甚少。
本研究旨在评估三级转诊中心中儿童发病患者的临床结局。
我们追踪了 33 名（中位诊断年龄为 16 岁）患者，这些患者在 1993 年 12 月至 2011 年期间经胆管造影和肝组织学诊断为 PSC 或 PSC/AIH，这些患者均在赫尔辛基大学医院接受治疗。重新评估了诊断程序和长期随访情况，直至 2013 年 12 月结束。
33 名患者均确诊为 PSC；其中 19 名患者与 AIH 重叠。在诊断时，33 名患者中有 3 名患有肝硬化。76%的患者存在炎症性肠病（IBD），其中大多数为溃疡性结肠炎（70%）；IBD 的治疗是肝脏疾病临床结局的次要决定因素。在最后一次随访（中位时间为 9 年）时，所有患者均存活，且无恶性肿瘤发生。大多数患者（91%）正在服用熊去氧胆酸，12 名 PSC/AIH 患者正在接受免疫抑制治疗。在随访期间，12 名患者（36%）的肝内疾病出现进展，接受了内镜逆行胰胆管造影检查。4 名患者（12%）接受了肝移植，1 名患者被列入名单；在移植物中未发现疾病复发。
在大多数患者中，儿童发病 PSC 和 PSC/AIH 的临床过程和结局在成年早期似乎良好。然而，大约三分之一的患者的 PSC 呈进行性，这对当前的治疗指南提出了挑战，需要进一步研究疾病的发病机制。
