NR1H4-related Progressive Familial Intrahepatic Cholestasis 5: Further Evidence for Rapidly Progressive Liver Failure

被引：13

作者：

Himes, Ryan W. ^{[1
]}

Mojarrad, Majid ^{[2
,3
,4
]}

Eslahi, Atieh ^{[2
,5
]}

Finegold, Milton J. ^{[6
]}

Maroofian, Reza ^{[7
]}

Moore, David D. ^{[8
]}

机构：

[1] Ochsner Med Ctr, Sect Pediat Gastroenterol & Ilepatol, New Orleans, LA USA

[2] Mashhad Univ Med Sci, Fac Med, Dept Med Genet, Mashhad, Razavi Khorasan, Iran

[3] Mashhad Univ Med Sci, Fac Med, Genet Res Ctr, Mashhad, Razavi Khorasan, Iran

[4] Genet Ctr Khorasan Razavi, Mashhad, Razavi Khorasan, Iran

[5] Mashhad Univ Med Sci, Fac Med, Student Res Comm, Mashhad, Razavi Khorasan, Iran

[6] Baylor Coll Med, Dept Pathol, Houston, TX 77030 USA

[7] St Georges Univ London, Genet Res Ctr, Mol & Clin Sci Inst, Cranmer Terrace, London, England

[8] Baylor Coll Med, Dept Mol & Cellular Biol, Houston, TX 77030 USA

来源：

JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION | 2020年 / 70卷 / 06期

关键词：

bile acids; coagulopathy; hyperbilirubinemia; jaundice; pediatric;

D O I：

10.1097/MPG.0000000000002670

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

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.

引用

页码：E111 / E113

页数：3

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