Phenotype and genotype analysis of progressive familial intrahepatic cholestasis type 4
10.3760/cma.j.cn101070-20221026-01207
- VernacularTitle:进行性家族性肝内胆汁淤积症4型的临床型及基因型分析
- Author:
Tingting YANG
1
;
Shuzhen MA
;
Ling LYU
;
Yuan CHEN
;
Ya′nan ZHANG
;
Xinli BAI
Author Information
1. 河北医科大学第二医院儿科，石家庄 050000
- Keywords:
Progressive familial intrahepatic cholestasis type 4;
TJP2 gene;
Zona ocdudens 2
- From:
Chinese Journal of Applied Clinical Pediatrics
2023;38(6):457-460
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To improve the understanding of progressive familial intrahepatic cholestasis type 4 (PFIC4).Methods:Clinical characteristics in a 10-year-old boy with PFIC4 at the Second Hospital of Hebei Medical University in February 2020 were retrospectively analyzed, and the TJP2 gene mutations were analyzed. Results:The proband was a 10-year-old boy with a slow onset of intrahepatic cholestasis[normal γ-glutamyl transpeptidase(GGT)], hepatosplenomegaly and hepatic fibrosis.Laboratory tests showed elevated levels of total bilirubin, especially the direct bilirubin increased.Alanine aminotransferase, aspartate transaminase acid and total bile acid were elevated, while GGT remained in a normal range.Oral medication of ursodeoxycholic acid initially improved liver biochemical parameters, but later fluctuated.Adenosine dehydrogenase, coagulation indicators and hepatic fibrosis indexes were persistently abnormal.The average shear wave velocity of liver was 1.9 times of the upper limit of normal value.Compound heterozygous mutations c. 334G>A(p.A112T)/c.580_639delGACCGGAGCCGTGGCCGGAGCCTGGAGCGGGG-CCTGGACCAAGACCATGCGCGCACCCGA (p.194_213delDRSRGRSLERGLDQDHARTR) were found in the TJP2 gene.The deletion mutation of the TJP2 gene was reported for the first time throughout the world.Both of his parents carried a heterozygous mutation. Conclusions:PFIC should be considered in intrahepatic cholestasis patients with a normal range of GGT.The detection of TJP2 gene mutation is of great value in the clinical diagnosis of PFIC4.The presence of TJP2 gene mutation may be a risk factor for patient developing cirrhosis of liver and primary liver cancer in early childhood.It is necessary for children with PFIC4 to be closely followed up.
