云南地区53例先天性高胆红素血症临床特征及UGT1A1基因多态性分析OACSTPCD

Objective To investigate the clinical characteristics of 53 cases of congenital hyperbiliru-binemia(Gilbert syndrome,Crigler-Najjar syndrome)caused by UGT1A1 gene mutation in Yunnan Province and the characteristics of UGT1A1 gene mutation.Methods 53 cases were selected from the Department of Gastroenterology of Kunming Children's Hospital from January 2017 to December 2022 and divided into Gilbert syndrome(GS)group and Crigler-Najjar-2(GN-2)group.The clinical data and genetic test results of children with type I1 syndrome(CN-2 group)and the clinical manifestations,laboratory test results and gene polymorphisms of the children were retrospectively analyzed.Results Children from the ethnic minority had the higher incidence in both groups.The proportion of females in CN-2 group was higher than that in GS group.In terms of liver system,the levels of TBil and IDB in CN-2 group were higher than those in GS group,with statistical significance(all P values<0.05).The liver structure in GS group was normal,while 3 patients in CN-2 group had the abnormal liver and biliary structure.In the extra-hepatic system,there were no abnormalities in blood system and glucose metabolism,abnormal blood lipids and thyroid function metabolism,vitamin D deficiency in GS group,vitamin A and D deficiency and vitamin E decreased in CN-2group.There were cardiac structural abnormalities in both groups,but the incidence of CN-2 group was higher than that of GS group.Among all the patients,the mutation frequency of c.1456T>G in exon 5 was the highest(32 cases,60.37%),followed by c.1091C>T(14 cases,60.37%).Exon 1,C.211g>A(6 cases,11.32%),and C.1198a>C(4 cases,7.55%).The frequency of c.1456T>G mutation in GS group and CN-2 group was 69.23%and 57.5%(9 and 23 cases),respectively,and there was no significant difference between the two groups(P>0.05).Among the two groups,the second most frequent mutation was c.1091C>T(4 cases and 10 cases),and there was no statistical significance between the two groups(P>0.05).The frequencies of UGT1A1 haplotypes 1、3 and 4 were statistically significant between GS group and CN-2 group(P<0.05).There is no significant difference in gender and ethnic groups among the four major mutation forms of UGT1A1(P>0.05).Conclusion The clinical manifestations of the liver system and extrahepatic system are different between GS group and CN-2 group.The highest mutation frequency of UGT 1A1 gene is c.1456T>G in exon 5.