Chinese children with chronic intrahepatic cholestasis and high γ-glutamyl transpeptidase: clinical features and association with ABCB4 mutations

Journal of Pediatric Gastroenterology and Nutrition
Ling-Juan FangJian-She Wang

Abstract

The aims of the present study was to study the significance of ABCB4 mutations in mainland Chinese children with chronic intrahepatic cholestasis and to correlate genetic findings with clinical features and response to ursodeoxycholic acid (UDCA) therapy. Thirteen patients with chronic intrahepatic cholestasis and elevated serum γ-glutamyl transpeptidase activity of unknown cause were enrolled in a single pediatric center. All of the encoding exons and flanking areas of ABCB4 were sequenced. Available liver biopsy specimens were immunostained for multidrug resistance protein 3. The clinical features, biochemical parameters, and responses to therapy were compared with patients with or without ABCB4 mutation(s). Six different ABCB4 mutations were identified in 3 patients; each patient was a compound heterozygote. Apart from c.139C>T (p.R47X), all were novel, including c.344+2_+3insT, c.1376A>G (p.D459G), c.1745G>A (p.R582Q), c.2077_2078delC (p.P693HfsX698), and c.3825_3826delA (p.M1276WfsX1308). Absent or reduced multidrug resistance protein 3 canalicular immunostaining was demonstrated in patients with ABCB4 mutations. Serum total bile acid levels were higher in patients with ABCB4 mutations than in patients without ABCB4 mutati...Continue Reading

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Citations

Jan 23, 2016·Journal of Clinical Gastroenterology·Zhaoyue WangXiong Ma
Aug 27, 2019·Pediatric Research·Neng-Li WangJian-She Wang
Sep 21, 2019·Revista Española De Enfermedades Digestivas : Organo Oficial De La Sociedad Española De Patología Digestiva·Minh Tuan HuynhVéronique Barbu
May 16, 2018·Hepatology Communications·Stephanie Barbara SchatzUlrich Baumann

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