Primary biliary cholangitis (PBC) is a chronic progressive cholestatic liver disease of unknown etiology characterized by highly specific anti-mitochondrial antibody in serum and immune-mediated non-pyogenic destructive infection in the small intrahepatic bile ducts,which can lead to portal inflammation and fibrosis and finally progress to liver cirrhosis and liver failure.At present,ursodeoxycholic acid (UDCA) is the only drug approved for the treatment of PBC with a recommended dose of 13-15 mg · kg-1 · d-1.There are significant improvements in the survival rate of patients achieving biochemical response after UDCA treatment.However,about 40％ of PBC patients do not respond to UDCA,and such patients have a risk of disease progression and are in urgent need of other drugs.With reference to recent clinical studies and guidelines,this article summarizes the basic concepts and latest advances in pharmacotherapy for PBC,as well as the perspectives of new drugs in clinical trials,in order to bring new hopes to PBC patients with poor response to UDCA.

Objective To explore the correlation of single nucleotide polymorphism ( SNP ) in Nrf2 gene with acute mountain sickness ( AMS) among Han populations in China .Methods As a nested case-control study , 603 Chinese Han young men who had been quickly exposed to 3700 m were adopted and divided into case group and control group ( 369 vs 234,respectively) by Lake Louise Self-assessment Scoring System(LLSS).The Sequenom Mass Array system was used to detect the SNPs of rs10497511 and rs2364722 in Nrf2 gene.Results Alleles of rs10497511 and rs2364722 were respec-tively detected in both case and control groups , which were T-C and A-G.Statistically significant difference was not found in allele frequencies ( P>0.05 ) .Further analysis showed that there was still no significant difference between the codomi -nant, dominant and recessive genotype models (P>0.05).Conclusion rs10497511 and rs2364722 of Nrf2 gene may not be related to susceptibility to AMS in Chinese Han populations .

The clinical features and genetic variants of the patient with sitosterolemia who was referred to Shanghai Children′s Medical Center, Shanghai Jiaotong University School of Medicine from June 2019 to January 2020 were retrospectively analyzed.The patient was treated with Ezetimibe tablets combined with diet control, and the follow-up was performed regularly.Besides, a relevant literature review was conducted.A 7-year and 5-month-old boy was referred to the hospital for " repeated thrombocytopenia for 7 months" with normal serum cholesterol.The whole exome sequencing showed that compound heterozygous mutations (p.Arg446*, p.Gln251*) in ABCG5 gene were inherited from their parents respectively.Hence, he was diagnosed with sitosterolemia.After 29 days of treatment with Ezetimibe tablets combined with diet control, the patient′s platelets returned to normal values without obvious adverse reactions related to drugs.Children with sitosterolemia may present with rare thrombocytopenia, and the therapeutic effects of Ezetimibe tablets combined with diet control are favorable.