Shah Ira, Chilkar Sujeet
Pediatric Liver Clinic, Department of Pediatrics, B. J. Wadia Hospital for Children, Mumbai, India.
J Pediatr Genet. 2017 Jun;6(2):126-127. doi: 10.1055/s-0036-1597912. Epub 2017 Jan 2.
Progressive familial intrahepatic cholestasis (PFIC) is a chronic cholestasis syndrome that begins in infancy and usually progresses to cirrhosis within the first decade of life. There are three varieties of PFIC described: PFIC-1 occurs due to mutations in the gene mapped to 18q21.31, PFIC-2 due to mutations in mapped to 2q24, and PFIC-3 due to mutations in located on 7q21.12. We report an Indian child whose mutation analysis was suggestive of PFIC-2. He underwent a biliary diversion at 3½ years of age but subsequently died secondary to massive hematemesis.
进行性家族性肝内胆汁淤积症（PFIC）是一种慢性胆汁淤积综合征，始于婴儿期，通常在生命的第一个十年内发展为肝硬化。已描述了三种类型的PFIC：PFIC-1是由于定位于18q21.31的基因发生突变所致，PFIC-2是由于定位于2q24的基因发生突变所致，PFIC-3是由于位于7q21.12的基因发生突变所致。我们报告了一名印度儿童，其突变分析提示为PFIC-2。他在3岁半时接受了胆汁转流手术，但随后因大量呕血而死亡。
