RÉSUMÉ
Objective:To investigate the clinical phenotype and prognosis among different genotypes of progressive familial intrahepatic cholestasis(PFIC) by cases analysis.Methods:The PFIC cases diagnosed at Beijing Children′s Hospital from 2015 to 2022 were collected, and the clinical phenotypic characteristics, treatment and prognosis were compared and analyzed.Results:A total of 628 cases of cholestatic liver disease were diagnosed, and 26 cases of PFIC were found, accounting for 4.1%.The number of PFIC 2 were the most, 14(53.8%)cases; three(11.5%) cases were PFIC 1; five(19.2%)cases were PFIC 3; while two(7.7%) cases were PFIC 4 and PFIC 6, respectively, and there was no case of PFIC 5.Type 1, 2, 4, and 6 had early onset ages(2 days to 21 months), while type 3 had a wide range of onset ages(8 to 145 months). The symptoms included jaundice(96.2%), pruritus(42.3%), and mucosal bleeding(15.4%). All three cases of type 1 had extrahepatic manifestations of diarrhea and malnutrition.Two cases of type 3 were found to have end-stage liver disease.Cases of PFIC 3 had increased serum γ-glutamyltransferase(97.2-439.5 U/L), while those of other types were normal.The bile acids were all increased(10.1-599.6 μmol/L). Abdominal ultrasound mainly showed liver enlargement(80.8%)and enhanced echogenicity of liver parenchyma(73.1%), enlargement of the spleen(61.5%). Ultrasound liver elastography ranged from 6.3 kPa to 23.1 kPa, there were 21(80.8%) cases ≥9 kPa.Among 26 cases, one case was lost to follow-up, and 11 cases were effective by oral medication alone.Fourteen children were still suffering from relapse or progress after drug treatment: four cases received liver transplantation (three cases had a good prognosis and one case died), two cases received biliary drainage, six cases were still taking drugs orally, and two cases died without active intervention in disease progress.Conclusion:Type 2 is the most common type in PFIC.The onset of most cases is in infancy.Jaundice, pruritus and hepatosplenomegaly are common clinical manifestations, and extrahepatic manifestations can be seen in type 1 cases.Type 3 cases can start with end-stage liver disease.Bile acid of all cases are increased.Except for type 3, the serum γ-glutamyltransferase of cases are normal.Oral medication has certain effects on some cases, but more than half progress, and some need biliary diversion or liver transplantation.
RÉSUMÉ
Objective To evaluate CYP2C19 genotypes distribution in children with Helicobacter pylori (Hp) infection and to know its correlation with gender,age,severity and frequency of clinical symptoms,pathological classification of gastric antral mucosa.Methods Antral mucosas of 214 Hp infection patients who were hospitalized at Beijing Children's Hospital of Capital Medical University from July 2013 to December 2015 were collected.Genotypes were determined by PCR-sequence specific primer method,which were classified as homozygous extensive metabolizer (HomEM),heterozygous extensive metabolizer (HetEM) and poor metabolizer (PM).The differences in CYP2C19 genotype distribution in gender,age,severity and frequency of clinical symptoms,pathological classification of gastric antral mucosa were analyzed.Results (1) Among 214 Hp infected children,the percentage of HomEM was 48.1％ (103/214 cases),HetEM was 46.3％ (99/214 cases),and PM was 5.6％ (12/214 cases).PM in the CYP2C19 infection patients was lower than that in the normal Han nationality in China,and the difference was statistically significant (P ＜ 0.05).(2)Among the 214 Hp infected patients,there were 124 males and 90 females,and their median age was 9 years and 9 months(ranged from 2 years and 8 months to 17 years and 11 months).There was no statistical difference in gender and age of CYP2C19 genotypes(all P ＞ 0.05).(3) There was no statistical difference in severity and frequency of clinical symptoms of CYP2C19 genotypes(all P ＞0.05).(4) In HomEM group,according to pathological classification of gastric mucosa,there were 14 cases of mild injury,36 cases of moderate injury and 53 cases of severe injury,respectively.In HetEM group,there were 17 cases of mild injury,29 cases of moderate injury and 53 cases of severe injury,respectively.In PM group,there were 2 cases of mild injury,3 cases of moderate injury and 7 cases of severe injury,respectively.There was no statistical difference in the pathological degree of inflammation changes in gastric antral mucosa of CYP2C19 genotypes(all P ＞0.05).(5)Thirty-five cases didn't receive treatment,78 cases received Hp eradication one time and failed,101 cases received no less than 2 times of unsuccessful Hp eradication.The number of Hp unsuccessful eradications were positively correlated with the degree of pathological inflammation changes (r =0.219,P ＜ 0.01).There was obvious difference between the number of Hp unsuccessful eradication and the pathological degree of inflammation changes in gastric antral mucosa (x2 =12.414,P ＜ 0.05).Conclusions There was no statistical difference in CYP2C19 genotypes distribution as for different gender,age,severity and frequency of clinical symptoms,pathological classification of gastric antral mucosa and CYP2C19 genotypes.The number of Hp unsuccessful eradication was positively correlated with the degree of pathological inflammation changes.