Liu Fang, Li Wei, Zhang Ming-Gang, Song Zhen-Mei, Wang Xiao-di, Wang Xiu-Hong, Du Shi-Yu
Altern Ther Health Med. 2024 Dec;30(12):369-373.
Repeated episodes of jaundice and pruritus are common in a group of autosomal recessive liver diseases known as benign recurrent intrahepatic cholestasis. Benign recurrent intrahepatic cholestasis (BRIC) is divided into two types, type 1 and type 2, and is caused by mutations in the ATP8B1 and ABCB11 genes. Here, we report a rare case of BRIC type 2 mutation.
A 45-year-old Chinese man had three frequent episodes of jaundice marked by extensive excoriation and severe pruritis, although he had no prior history of jaundice. Laboratory investigations showed no evidence of liver damage caused by viral, autoimmune, or acquired metabolic etiologies. The CT scan revealed an enlarged gallbladder with numerous punctate high-density shadows, while no wall thickening was observed. Endoscopic ultrasonography showed no evidence of dilation of the intrahepatic and extrahepatic bile duct, as well as the absence of gallstone.
Immunohistochemical examinations of liver biopsy samples showed cytokeratin-7 positive hepatocytes, suggesting chronic intrahepatic cholestasis. The reticulin fiberstaining demonstrated that the portions of the hepatic plate in the center of the lobule were asymmetrically organized,and somewhat enlarged, with collapsed areas indicating intralobular inflammation. Moreover, there were areas of collapse that indicated the presence of intralobular inflammation. Whole exome sequencing revealed mutations in the ABCB11 gene; c.3084A>G, p.A1028A homozygous mutation (chr2-169789016), and c.2594C>T, p.A865V heterozygous mutation (chr2-169801131). Based on these findings, the final diagnosis of the patient was metabolism-related jaundice.
Apart from receiving tapering dosage of prednisone to lower bilirubin levels, the patient received no extra care.
The comprehensive diagnosis of a middle-aged male patient with BRIC-2, which involved extensive radiological, hematological, and genetic investigations, informed a tailored tapering prednisone regimen, highlighting the importance of personalized medicine in managing atypical presentations of this rare cholestatic disorder.
在一组称为良性复发性肝内胆汁淤积症的常染色体隐性肝病中，黄疸和瘙痒反复发作很常见。良性复发性肝内胆汁淤积症（BRIC）分为1型和2型，由ATP8B1和ABCB11基因突变引起。在此，我们报告一例罕见的BRIC 2型突变病例。
一名45岁的中国男性尽管既往无黄疸病史，但频繁出现三次黄疸发作，伴有广泛的皮肤擦伤和严重瘙痒。实验室检查未发现由病毒、自身免疫或后天代谢病因引起的肝损伤证据。CT扫描显示胆囊增大，有许多点状高密度影，但未观察到胆囊壁增厚。内镜超声检查未发现肝内和肝外胆管扩张以及胆结石。
肝活检样本的免疫组织化学检查显示细胞角蛋白-7阳性肝细胞，提示慢性肝内胆汁淤积。网状纤维染色显示小叶中心肝板部分组织不对称，且有所增大，有塌陷区域提示小叶内炎症。此外，有塌陷区域表明存在小叶内炎症。全外显子测序显示ABCB11基因存在突变；c.3084A>G，p.A1028A纯合突变（chr2-169789016），以及c.2594C>T，p.A865V杂合突变（chr2-169801131）。基于这些发现，该患者的最终诊断为代谢相关黄疸。
除接受逐渐减量的泼尼松以降低胆红素水平外，患者未接受其他额外治疗。
对一名患有BRIC-2的中年男性患者进行的综合诊断，包括广泛的放射学、血液学和基因检查，为其制定了量身定制的逐渐减量泼尼松方案，突出了个性化医疗在管理这种罕见胆汁淤积性疾病非典型表现中的重要性。
