Jitraruch Suttiruk, Fitzpatrick Emer, Deheragoda Maesha, Deganello Annamaria, Mieli-Vergani Giorgina, Height Susan, Rees David, Hadzic Nedim, Samyn Marianne
Pediatric Liver, GI, and Nutrition Center, King's College Hospital, London, United Kingdom; Department of Pediatrics, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.
Pediatric Liver, GI, and Nutrition Center, King's College Hospital, London, United Kingdom.
J Pediatr. 2017 Oct;189:79-85.e2. doi: 10.1016/j.jpeds.2017.06.035. Epub 2017 Jul 20.
To assess the incidence, clinical features, and outcome of autoimmune liver disease (AILD) in patients with sickle cell disease (SCD).
Single center retrospective review of patients with SCD with AILD referred between 1999 and 2015.
Thirteen of 77 (17%) patients with SCD with hepatic dysfunction were diagnosed with AILD (median age 11, range, 3.4-16 years) with a female preponderance (77%). Acute hepatitis and insidious onset were the commonest presentations. Two patients (15%) presented with acute liver failure. In 2 patients (15%), parvovirus B19-induced transient red cell aplasia preceded the diagnosis of AILD. All patients were positive for antinuclear and/or smooth muscle autoantibodies. Six of 12 patients (50%) had cholangiopathy on cholangiogram suggesting autoimmune sclerosing cholangitis (ASC). Liver biopsy, performed in 11 patients without complications, showed interface hepatitis in 90%. Patients with AILD were treated with standard immunosuppression. After a median follow-up of 3.8 years (range, 0.2-14.3), 10 patients are alive (1 was transplanted 6.4 years after diagnosis); 2 are lost to follow-up; 1 died of subdural hemorrhage before starting treatment for AILD. Five (42%) achieved full and 4 (33%) partial biochemical remission. Ulcerative colitis, present in 4 patients (2 male patients, 3 with ASC) was diagnosed in 2 patients before and in 2 patients after the diagnosis of AILD.
AILD is not uncommon in patients with SCD, affecting mainly female patients and responding satisfactorily to immunosuppressive treatment. Liver biopsy is helpful in confirming the diagnosis and can be safely performed in the absence of acute vaso-occlusive sickling episodes. Ulcerative colitis is common in the presence of ASC.
评估镰状细胞病（SCD）患者自身免疫性肝病（AILD）的发病率、临床特征及预后。
对1999年至2015年间转诊的患有AILD的SCD患者进行单中心回顾性研究。
77例肝功能不全的SCD患者中有13例（17%）被诊断为AILD（中位年龄11岁，范围3.4 - 16岁），女性占优势（77%）。急性肝炎和隐匿起病是最常见的表现。2例患者（15%）出现急性肝衰竭。2例患者（15%）在AILD诊断之前出现细小病毒B19诱导的短暂红细胞再生障碍。所有患者抗核抗体和/或平滑肌自身抗体均为阳性。12例患者中有6例（50%）在胆管造影时有胆管病变，提示自身免疫性硬化性胆管炎（ASC）。11例无并发症的患者进行了肝活检，90%显示界面性肝炎。AILD患者接受标准免疫抑制治疗。中位随访3.8年（范围0.2 - 14.3年）后，10例患者存活（1例在诊断6.4年后接受移植）；2例失访；1例在开始AILD治疗前死于硬膜下出血。5例（42%）实现完全生化缓解，4例（33%）实现部分生化缓解。4例患者（2例男性患者，3例患有ASC）存在溃疡性结肠炎，其中2例在AILD诊断之前确诊，2例在AILD诊断之后确诊。
AILD在SCD患者中并不罕见，主要影响女性患者，对免疫抑制治疗反应良好。肝活检有助于确诊，在无急性血管闭塞性镰变发作时可安全进行。ASC患者中溃疡性结肠炎很常见。
