The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency

• DOI: 10.1371/journal.pone.0153114
• Publication Date: 2016-04-06T19:32:22Z
• Authors: Neng-Li Wang; Li-Ting Li; Bing-Bing Wu; Jing-Yu Gong; Kuerbanjiang Abud...; Gang Li; Jian-She Wang
• Keywords: Adenosine Triphosphatases; Male; 0303 health sciences; Cholestasis; Adolescent; Science; Q; R; Infant, Newborn; Infant; gamma-Glutamyltransferase; 3. Good health; 03 medical and health sciences; Case-Control Studies; Medicine; Humans; ATP-Binding Cassette Transporters; Female; Child; ATP Binding Cassette Transporter, Subfamily B, Member 11; Research Article

Background and Aims Genetic defects in ATP8B1 or ABCB11 account for the majority of cholestasis with low GGT. But ranges GGT patients deficiency are unclear. This study tried to unravel features these that improve diagnostic efficiency. Methods enrolled 207 chronic who were ordered test and/or from January 2012 December 2015. Additional 17 ATPB81 diagnosed between 2004 2011 also this study. 600 population-matched children served as controls. Clinical data obtained by retrospectively reviewing medical records. Results A total 26 30 deficiency. levels similar two disorders at any observed month age, but varied age. The peak value was <70U/L 2nd~6th life, <60U/L 7th~12th <50U/L beyond one year. a genetic diagnosis different without Larger found diagnosis. Some controls had GGT≥70U/L month. Of patients, 39 (18.8%) 111 met described above, including all sensitivity 100.0%. rate positive molecular increased 35.1% (39/111 vs. 39/207, X2 = 10.363, P 0.001). remaining 96 exceeded above failed receive These accounted 43.8% sequencing cost. Conclusions