The importance of inherited metabolic disease screening in the treatment and diagnosis of infantile cholestatic hepatopathy

Abstract

Objective To assess the significance of screening for inherited metabolic diseases in the treatment and diagnosis of infantile cholestatic hepatopathy, and to analyze the biochemical changed characteristics of patients who were diagnosed with gene mutations. Methods From January 2016 to January 2017, 69 children who were diagnosed as intrahepatic cholestasis in the Pediatric Gastroenterology Department of Shengjing Hospital Affiliated to China Medical University were enrolled.The medical history, physical examination, biochemical test and genetic metabolism screening results were recorded. Results Sixty-seven cases of 69 children made tandem mass spectrometry(MS/MS), gas chromatography-mass spectrometry(GC/MS) or genetic testing.Compared with the normal hereditary metabolic disease screening group, the abnormal group had higher levels of alkaline phosphatase, total bilirubin, direct bilirubin, and total bile acid, the difference was statistically significant (P A, 851del4, IVS11+ 1G>A, 851_854de and 852_855del.The main clinical manifestations of progressive familial intrahepatic cholestasis type 2(PFIC2) were cholestatic jaundice and pruritus, γ-glutamyl transpeptidase was normal, and with the c. 667C>T defection in the ABCB11 gene.The TALDO1 gene mutation type of one transaldolase deficiency was c. 716G>A and c. 854dupA heterozygous mutation. Conclusion MS/MS and GC/MS play a vital role in the early identification of cholestasis caused by genetic and metabolic disorders.Genetic testing can provide accurate diagnosis for rare genetic metabolic diseases. Key words: Tandem mass spectrometry; Gas chromatography-mass spectrometry; Gene sequence analysis; Neonatal intrahepatic cholestasis; Progressive familial intrahepatic cholestasis; Transaldolase deficiency