Nr1h4-Related Progressive Familial Intrahepatic Cholestasis 5: Further Evidence For Rapidly Progressive Liver Failure
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION(2020)
摘要
Pathogenic sequence variants in the nuclear bile acid receptor FXR, encoded by NR1H4, have been reported in a small number of children with low-gamma-glutamyl transferase (GGT) cholestasis progressing to liver failure. We describe 3 additional children from 2 unrelated families with cholestasis and liver failure because of pathologic variants in NR1H4. One patient underwent liver transplantation and has had good clinical outcomes in 6 years of follow-up. Although that patient has biochemical evidence of increased bile acid synthetic activity, he has not experienced post-transplant diarrhea or allograft steatosis, as has been reported among other transplanted patients.
更多查看译文
关键词
bile acids, coagulopathy, hyperbilirubinemia, jaundice, pediatric
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络