成人γ-谷氨酰转移酶升高：我们是否应考虑进行性家族性肝内胆汁淤积症？

Elevation of gamma-glutamyl transferase in adult: Should we think about progressive familiar intrahepatic cholestasis?

作者信息

Oliveira Hugo M, Pereira Cláudia, Santos Silva Ermelinda, Pinto-Basto Jorge, Pessegueiro Miranda Helena

机构信息

Department of Internal Medicine, Unidade Local de Saúde de Matosinhos - Hospital Pedro Hispano, Senhora da Hora Matosinhos, Portugal.

Department of Internal Medicine, Centro Hospitalar do Porto - Hospital de Santo António, Porto, Portugal.

出版信息

Dig Liver Dis. 2016 Feb;48(2):203-5. doi: 10.1016/j.dld.2015.11.002. Epub 2015 Dec 1.

DOI:10.1016/j.dld.2015.11.002

PMID:26699824

Abstract

BACKGROUND

There are three types of progressive familial intrahepatic cholestasis (PFIC). Type 3 is characterized by elevated gamma-glutamyl transferase (γ-GT) and it can be diagnosed in adolescence/adulthood. The genetic defect of PFIC 3 appears to explain the pathogenesis of intrahepatic cholestasis of pregnancy (ICP).

AIMS

Draw attention to this rare disease, especially in adulthood, and clarify the association between ICP and PFIC 3.

RESULTS

We describe a series of cases from a Portuguese northern family with two brothers presenting chronic cholestasis since adolescence. Brother 1: since 15-years-old with pruritus and elevated γ-GT ∼6x. Brother 2: pre-term, due to severe maternal pruritus and jaundice, since 13-years-old with pruritus, jaundice and ∼8x γ-GT elevation. Common causes of cholestasis were excluded and liver histologies were nonspecific. Research for mutation on ABCB4 gene showed mutations in both alleles.

CONCLUSION

Disease and mechanisms that determine cholestasis are complex and their understanding may provide new therapeutics.

摘要

背景

进行性家族性肝内胆汁淤积症（PFIC）有三种类型。3型以γ-谷氨酰转移酶（γ-GT）升高为特征，可在青春期/成年期诊断。PFIC 3的基因缺陷似乎可以解释妊娠期肝内胆汁淤积症（ICP）的发病机制。

目的

引起对这种罕见疾病的关注，尤其是在成年期，并阐明ICP与PFIC 3之间的关联。

结果

我们描述了一个来自葡萄牙北部家庭的一系列病例，有两个兄弟自青春期以来出现慢性胆汁淤积。兄弟1：自15岁起出现瘙痒，γ-GT升高约6倍。兄弟2：早产，原因是母亲严重瘙痒和黄疸，自13岁起出现瘙痒、黄疸，γ-GT升高约8倍。排除了胆汁淤积的常见原因，肝脏组织学表现无特异性。对ABCB4基因的突变研究显示两个等位基因均有突变。