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Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations
Benign recurrent intrahepatic cholestasis (BRIC), a rare cause of cholestasis, is characterized by recurrent episodes of cholestasis without permanent liver damage. BRIC type 2 (BRIC2) is an autosomal recessive disorder caused by ABCB11 mutations. A 6-year-old girl had recurrent episodes of jaundice...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416387/ https://www.ncbi.nlm.nih.gov/pubmed/30899697 http://dx.doi.org/10.5223/pghn.2019.22.2.201 |
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author | Sohn, Min Ji Woo, Min Hyung Seong, Moon-Woo Park, Sung Sup Kang, Gyeong Hoon Moon, Jin Soo Ko, Jae Sung |
author_facet | Sohn, Min Ji Woo, Min Hyung Seong, Moon-Woo Park, Sung Sup Kang, Gyeong Hoon Moon, Jin Soo Ko, Jae Sung |
author_sort | Sohn, Min Ji |
collection | PubMed |
description | Benign recurrent intrahepatic cholestasis (BRIC), a rare cause of cholestasis, is characterized by recurrent episodes of cholestasis without permanent liver damage. BRIC type 2 (BRIC2) is an autosomal recessive disorder caused by ABCB11 mutations. A 6-year-old girl had recurrent episodes of jaundice. At two months of age, jaundice and hepatosplenomegaly developed. Liver function tests showed cholestatic hepatitis. A liver biopsy revealed diffuse giant cell transformation, bile duct paucity, intracytoplasmic cholestasis, and periportal fibrosis. An ABCB11 gene study revealed novel compound heterozygous mutations, including c.2075+3A>G in IVS17 and p.R1221K. Liver function test results were normal at 12 months of age. At six years of age, steatorrhea, jaundice, and pruritus developed. Liver function tests improved following administration of phenylbutyrate and rifampicin. Her younger brother developed jaundice at two months of age and his genetic tests revealed the same mutations as his sister. This is the first report of BRIC2 confirmed by ABCB11 mutations in Korean siblings. |
format | Online Article Text |
id | pubmed-6416387 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition |
record_format | MEDLINE/PubMed |
spelling | pubmed-64163872019-03-21 Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations Sohn, Min Ji Woo, Min Hyung Seong, Moon-Woo Park, Sung Sup Kang, Gyeong Hoon Moon, Jin Soo Ko, Jae Sung Pediatr Gastroenterol Hepatol Nutr Case Report Benign recurrent intrahepatic cholestasis (BRIC), a rare cause of cholestasis, is characterized by recurrent episodes of cholestasis without permanent liver damage. BRIC type 2 (BRIC2) is an autosomal recessive disorder caused by ABCB11 mutations. A 6-year-old girl had recurrent episodes of jaundice. At two months of age, jaundice and hepatosplenomegaly developed. Liver function tests showed cholestatic hepatitis. A liver biopsy revealed diffuse giant cell transformation, bile duct paucity, intracytoplasmic cholestasis, and periportal fibrosis. An ABCB11 gene study revealed novel compound heterozygous mutations, including c.2075+3A>G in IVS17 and p.R1221K. Liver function test results were normal at 12 months of age. At six years of age, steatorrhea, jaundice, and pruritus developed. Liver function tests improved following administration of phenylbutyrate and rifampicin. Her younger brother developed jaundice at two months of age and his genetic tests revealed the same mutations as his sister. This is the first report of BRIC2 confirmed by ABCB11 mutations in Korean siblings. The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 2019-03 2019-02-27 /pmc/articles/PMC6416387/ /pubmed/30899697 http://dx.doi.org/10.5223/pghn.2019.22.2.201 Text en Copyright © 2019 by The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition https://creativecommons.org/licenses/by-nc/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (https://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Sohn, Min Ji Woo, Min Hyung Seong, Moon-Woo Park, Sung Sup Kang, Gyeong Hoon Moon, Jin Soo Ko, Jae Sung Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations |
title | Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations |
title_full | Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations |
title_fullStr | Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations |
title_full_unstemmed | Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations |
title_short | Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations |
title_sort | benign recurrent intrahepatic cholestasis type 2 in siblings with novel abcb11 mutations |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416387/ https://www.ncbi.nlm.nih.gov/pubmed/30899697 http://dx.doi.org/10.5223/pghn.2019.22.2.201 |
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