Analysis of genetic variants in a patient with Familial hemophagocytic lymphohistiocytosis / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a patient with Familial hemophagocytic lymphohistiocytosis (FHL).@*METHODS@#A 35-day-old male infant who was admitted to the Oriental Hospital Affiliated to Xiamen University on August 3, 2021 due to fever for over 7 hours was selected as the study subject. Whole exome sequencing (WES) was carried out for the proband and his parents, and candidate variants were selected based on the clinical phenotypes of the proband and confirmed by Sanger sequencing.@*RESULTS@#WES and Sanger sequencing results revealed that the proband had harbored compound heterozygous c.67_71delinsGCCC and c.65delC variants of the PRF1 gene, which were respectively inherited from his mother and father. The c.67_71delinsGCCC variant was unreported previously. Based on the guidelines of American College of Medical Genetics and Genomics and clinical manifestations, it was classified as pathogenic (PVS1+PM2_Supporting+PM3+PP4). c.65delC was a known pathogenic variant (PVS1+PM2_Supporting+PM3_Strong+PP4).@*CONCLUSION@#The compound heterozygous variants of c.67_71delinsGCCC and c.65delC of the PRF1 gene probably underlay the disease in the proband. The identification of the novel variant has expanded the mutational spectrum of the PRF1 gene.

Study on the protective effect of adenosylmethionine tablets on mild liver injury in early pregnancy with hepatitis B virus infection / 中国基层医药

Objective:To study the protective effect of adenosylmethionine tablet on mild liver injury in early pregnancy with chronic hepatitis B virus (HBV) infection and observe the ending of pregnancy.Methods:From January 2017 to December 2018, 46 cases of chronic HBV infected pregnant women with mild abnormal liver function in early pregnancy who were treated in Hangzhou Xixi Hospital were selected as treatment group.Another 53 cases of chronic HBV infected pregnant women with the similar situation of liver function without drug treatment were selected as control group during the same period.The levels of total bilirubin(TB), alanine aminotransferase (ALT), glutamine transaminase(GGT), prothrombin time(PT) and HBV DNA quantification(HBVDNA) were compared between the two groups, and the pregnancy outcome in the two groups was observed.Results:After treatment for 2 weeks, the ALT and GGT levels of the treatment group were significantly lower than those of the control group [(80.85±30.55)U/L vs.(112.79±27.01)U/L( t=-4.26, P<0.05); (30.81±24.26)U/L vs.(44.20±24.89)U/L( t=-2.07, P<0.05)]. The recovery time of liver function in the treatment group[(6.43±2.06)weeks] was significantly shorter than that in the control group [(10.21±3.05)weeks] ( t=-5.66, P<0.05). The fluctuation rate of liver function in the treatment group[21.4%(6/28)] was lower than that in the control group[37.0%(10/37)], but there was no statistically significant difference between the two groups(χ 2=0.27, P=0.60). There were no statistically significant differences between the two groups in the gestational age, fetal distress rate and birth weight(all P>0.05). Conclusion:Adenosylmethionine tablets can improve the liver function of pregnant women with chronic HBV infection, which is helpful for the treatment of liver dysfunction in early pregnancy.The use of adenosylmethionine tablets in early pregnancy has no obvious adverse effect on pregnancy outcome.