Mitra Suvradeep, Das Ashim, Thapa Baburam, Kumar Vasishta Rakesh
PGIMER, Histopathology, Chandigarh, India.
Post Graduate Institute of Medical Education and Research, Pediatric Gastroenterology, Nehru Hospital, Chandigarh, India.
Fetal Pediatr Pathol. 2020 Apr;39(2):107-123. doi: 10.1080/15513815.2019.1641860. Epub 2019 Jul 23.
Progressive familial intrahepatic cholestasis type 2 (PFIC2) is caused by a defect or deficiency of bile salt export protein (BSEP) due to mutation in the ABCB11 gene. We intend to evaluate the phenotype-genotype correlation in 10 diagnosed cases of PFIC2 in a single tertiary care center in North India. The clinical, biochemical, histopathological, immunohistochemical, ultrastructural and genetic data of the 10 diagnosed cases of PFIC2 were recorded. Icterus, pruritus and bleeding manifestations were the commonest clinical symptoms. Giant cell transformation was seen in 50% of the patients. Two predominant genetic variants were ABCB11 missense p.Val444Ala (c. 1331 T > C) and ABCB11 missense p.Asn591Ser (c. 1772 A > G) in their homozygous or compound heterozygous states and were associated with retained BSEP immunopositivity and reduced but retained BSEP immunopositivity respectively. Retention of BSEP is common in North Indian children of PFIC2 with no phenotype-genotype correlation.
2型进行性家族性肝内胆汁淤积症（PFIC2）是由ABCB11基因突变导致胆盐输出蛋白（BSEP）缺陷或缺乏引起的。我们打算在印度北部一家三级医疗中心对10例确诊的PFIC2病例进行表型-基因型相关性评估。记录了10例确诊PFIC2病例的临床、生化、组织病理学、免疫组织化学、超微结构和基因数据。黄疸、瘙痒和出血表现是最常见的临床症状。50%的患者出现巨细胞转化。两个主要的基因变异是ABCB11错义突变p.Val444Ala（c.1331 T>C）和ABCB11错义突变p.Asn591Ser（c.1772 A>G），它们处于纯合或复合杂合状态，分别与BSEP免疫阳性保留和BSEP免疫阳性降低但仍保留有关。BSEP保留在PFIC2的印度北部儿童中很常见，且不存在表型-基因型相关性。
