Choudhury Ashok, Kulkarni Anand V, Sahoo Bishnupriya, Bihari Chhagan
Hepatology, Institute of Liver and Biliary Sciences, New Delhi, India.
Pediatrics, Shree Guru Gobind Singh Tricentenary University Faculty of Medicine and Health Sciences, Gurgaon, India.
BMJ Case Rep. 2017 May 5;2017:bcr-2016-218874. doi: 10.1136/bcr-2016-218874.
Benign recurrent intrahepatic cholestasis (BRIC) is characterised by recurrent episodes of jaundice, severe pruritus and low or normal serum γ-glutamyltransferase activity lasting from several weeks to months. BRIC is an autosomal recessive disorder caused by the mutation in either of the two hepatic transporter genes-ATP8B1 gene. The disease is very well known for episodic flare of jaundice with cholestatic symptoms that are spontaneous or perpetuated by acute insults, followed by self-recovery. There is no proven medical therapy and rarely does it progress to progressive familial intrahepatic cholestasis (PFIC) or biliary cirrhosis. BRIC may be associated with nephrolithiasis, diabetes or pancreatitis. Here, we report a case of BRIC with spontaneous flare and further complicated by drug-induced liver injury with disabling cholestastic symptoms, who underwent endoscopic nasobiliary drainage and was completely relieved of the distressing symptoms.
良性复发性肝内胆汁淤积症（BRIC）的特征是黄疸反复发作、严重瘙痒，血清γ-谷氨酰转移酶活性低或正常，持续数周数月。BRIC是一种常染色体隐性疾病，由两种肝转运蛋白基因之一——ATP8B1基因突变引起。该疾病以黄疸伴胆汁淤积症状的发作性加重而闻名，这些症状可自发出现或因急性损伤而持续，随后自行缓解。目前尚无经证实的药物治疗方法，且很少进展为进行性家族性肝内胆汁淤积症（PFIC）或胆汁性肝硬化。BRIC可能与肾结石、糖尿病或胰腺炎有关。在此，我们报告一例BRIC患者，其黄疸自发发作，并进一步并发药物性肝损伤，伴有严重的胆汁淤积症状，该患者接受了内镜鼻胆管引流术，令人痛苦的症状完全缓解。
