Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing

2016 Fiscal Year Final Research Report

• Project/Area Number: 26870489
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics; Embryonic/Neonatal medicine
• Research Institution: Nagoya City University
• Principal Investigator: SUGIURA Tokio 名古屋市立大学, 大学院医学研究科, 講師 (10381881)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 胆汁うっ滞

Outline of Final Research Achievements

We analyzed 109 patients with cholestasis (“genetic cholestasis,” 31 subjects; “unknown with complications” such as prematurity, 46 subjects; “unknown without complications,” 32 subjects), and a molecular genetic diagnosis was made for 28 subjects (26%). The rate of positive genetic diagnosis in each category was 22 of 31 (71%) for the “genetic cholestasis” group, 2 of 46 (4.3%) for the “unknown with complications” group, and 4 of 32 (12.5%) for the “unknown without complications” group. The grouping of the molecular diagnoses in the group with genetic cholestasis was as follows: 12 with Alagille syndrome, 5 with neonatal Dubin-Johnson syndrome, 5 with neonatal intrahepatic cholestasis caused by citrin deficiency, and 6 with progressive familial intrahepatic cholestasis or benign recurrent intrahepatic cholestasis with low gamma-glutamyl transpeptidase levels.

Free Research Field

小児科