Differences in presentation and progression between severe FIC1 and BSEP deficiencies.
Differences in presentation and progression between severe FIC1 and BSEP deficiencies.
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DOI：
10.1016/j.jhep.2010.01.034
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发表时间：
2010-07
影响因子：
25.7
通讯作者：
Bull LN
中科院分区：
文献类型：
--
作者：
Pawlikowska L;Strautnieks S;Jankowska I;Czubkowski P;Emerick K;Antoniou A;Wanty C;Fischler B;Jacquemin E;Wali S;Blanchard S;Nielsen IM;Bourke B;McQuaid S;Lacaille F;Byrne JA;van Eerde AM;Kolho KL;Klomp L;Houwen R;Bacchetti P;Lobritto S;Hupertz V;McClean P;Mieli-Vergani G;Shneider B;Nemeth A;Sokal E;Freimer NB;Knisely AS;Rosenthal P;Whitington PF;Pawlowska J;Thompson RJ;Bull LN
血清γ-谷氨酰转肽酶水平正常的进行性家族性肝内胆汁淤积症（PFIC）可能由ATP 8B 1（编码家族性肝内胆汁淤积症1 [FIC 1]）或ABCB 11（编码胆盐输出泵[BSEP]）突变引起。我们评估了诊断为PFIC的患者的临床和实验室特征，这些患者携带ATP 8B 1（FIC 1缺陷）或ABCB 11（BSEP缺陷）突变。我们的目标是确定区分这两种疾病的表现和病程的特征，从而促进诊断和阐明ATP 8B 1和ABCB 11突变的不同后果。采用问卷调查和图表审查进行了回顾性多中心研究。对145例ATP 8B 1（61例“FIC 1患者”）或ABCB 11（84例“BSEP患者”）突变的PFIC患者的可用临床和生化数据进行了评价。BSEP患者的血清转氨酶和胆盐水平较高; FIC 1患者的血清碱性磷酸酶值较高，血清白蛋白值较低。肝活检时白色细胞计数升高和巨细胞或多核细胞在BSEP患者中更常见。BSEP患者更常合并胆结石和门脉高压。腹泻、胰腺疾病、佝偻病、肺炎、异常汗液测试、听力障碍和生长不良在FIC 1患者中更常见。在BSEP患者中，D482 G突变患者的病程进展较慢。FIC 1和BSEP缺乏症的严重形式不同。BSEP患者表现出更严重的肝胆疾病，而FIC 1患者表现出更大的肝外疾病的证据。
Progressive familial intrahepatic cholestasis (PFIC) with normal serum levels of gamma-glutamyltranspeptidase can result from mutations in ATP8B1 (encoding familial intrahepatic cholestasis 1 [FIC1]) or ABCB11 (encoding bile salt export pump [BSEP]). We evaluated clinical and laboratory features of disease in patients diagnosed with PFIC, who carried mutations in ATP8B1 (FIC1 deficiency) or ABCB11 (BSEP deficiency). Our goal was to identify features that distinguish presentation and course of these 2 disorders, thus facilitating diagnosis and elucidating the differing consequences of ATP8B1 and ABCB11 mutations. A retrospective multi-center study was conducted, using questionnaires and chart review. Available clinical and biochemical data from 145 PFIC patients with mutations in either ATP8B1 (61 “FIC1 patients”) or ABCB11 (84 “BSEP patients”) were evaluated. At presentation, serum aminotransferase and bile salt levels were higher in BSEP patients; serum alkaline phosphatase values were higher, and serum albumin values were lower, in FIC1 patients. Elevated white blood cell counts, and giant or multinucleate cells at liver biopsy, were more common in BSEP patients. BSEP patients more often had gallstones and portal hypertension. Diarrhea, pancreatic disease, rickets, pneumonia, abnormal sweat tests, hearing impairment, and poor growth were more common in FIC1 patients. Among BSEP patients, the course of disease was less rapidly progressive in patients bearing the D482G mutation. Severe forms of FIC1 and BSEP deficiency differed. BSEP patients manifested more severe hepatobiliary disease, while FIC1 patients showed greater evidence of extrahepatic disease.
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影响因子：
13.5
作者：
Byrne, Jane A.;Strautnieks, Sandra S.;Thompson, Richard J.
通讯作者：
Thompson, Richard J.
影响因子：
3.5
作者：
Green, RM;Hoda, F;Ward, KL
通讯作者：
Ward, KL
影响因子：
--
作者：
Bacchetti, P
通讯作者：
Bacchetti, P
影响因子：
2.2
作者：
Oshima, T;Ikeda, K;Takasaka, T
通讯作者：
Takasaka, T
影响因子：
5.2
作者：
Bourke, B;Goggin, N;Drumm, B
通讯作者：
Drumm, B