基因检测能否指导胆汁淤积性瘙痒的治疗？一例2型良性复发性肝内胆汁淤积伴严重鼻胆管引流难治性瘙痒的病例。
Can genetic testing guide the therapy of cholestatic pruritus? A case of benign recurrent intrahepatic cholestasis type 2 with severe nasobiliary drainage-refractory itch.
作者信息
Holz Robert, Kremer Andreas E, Lütjohann Dieter, Wasmuth Hermann E, Lammert Frank, Krawczyk Marcin
机构信息
Department of Medicine II, Saarland University Medical Center Saarland University Homburg Germany.
Department of Medicine I Friedrich-Alexander-University Erlangen-Nürnberg Erlangen Germany.
出版信息
Hepatol Commun. 2018 Jan 10;2(2):152-154. doi: 10.1002/hep4.1144. eCollection 2018 Feb.
Benign recurrent intrahepatic cholestasis (BRIC) is a peculiar familial disease caused by mutations of the genes encoding hepatocanalicular flippase for phosphatidylserine (ATP8B1; BRIC type 1) or the bile salt export pump (ABCB11; BRIC type 2). Here, we report on a patient with nasobiliary drainage-refractory BRIC type 2 who improved under plasma separation and anion absorption therapy. We also suggest that nasobiliary drainage might be an ineffective approach in carriers of severe loss-of-function mutations of the bile salt export pump ABCB11. ( 2018;2:152-154).
良性复发性肝内胆汁淤积症（BRIC）是一种特殊的家族性疾病，由编码磷脂酰丝氨酸肝小管翻转酶（ATP8B1；1型BRIC）或胆盐输出泵（ABCB11；2型BRIC）的基因突变引起。在此，我们报告1例2型BRIC患者，其鼻胆管引流治疗无效，但在血浆置换和阴离子吸附治疗后病情改善。我们还认为，对于胆盐输出泵ABCB11严重功能丧失突变携带者，鼻胆管引流可能是一种无效的治疗方法。（2018；2：152 - 154）
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