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Benign Recurrent Intrahepatic Cholestasis with a Single Heterozygote Mutation in the ATP8B1 Gene

김미진|최연호|Chang Seok Ki|Yoo Min Lee|Yoon Lee|Yun Seok Lee
대한소아소화기영양학회 (The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition)|2012.06|Pediatric Gastroenterology, Hepatology & Nutrition|제15권 제2호|pp. 22-126|DOI http://dx.doi.org/

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참고문헌

키워드

Intrahepatic cholestasisSingle heterozygoteATP8B1 gene
주제분류소아과학

초록

Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive inherited disorder characterized by multiple recurrent episodes of severe cholestatic jaundice without obstruction of extrahepatic bile duct. We present the case of a 7-year-old boy with BRIC confirmed by mutation analysis in the ATP8B1 gene and typical clinical manifestation. Despite inheritance of BRIC, we detected a mutation on only one allele. To our knowledge, this is the first report of BRIC with a confirmed single heterozygote novel mutation in the ATP8B1 gene in Korea.

Abstract

Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive inherited disorder characterized by multiple recurrent episodes of severe cholestatic jaundice without obstruction of extrahepatic bile duct. We present the case of a 7-year-old boy with BRIC confirmed by mutation analysis in the ATP8B1 gene and typical clinical manifestation. Despite inheritance of BRIC, we detected a mutation on only one allele. To our knowledge, this is the first report of BRIC with a confirmed single heterozygote novel mutation in the ATP8B1 gene in Korea.

참고문헌 (19)

  1. Folvik G, "Benign recurrent intrahepatic cholestasis: review and long-term follow-up of five cases", Scand J Gastroenterol, 47, pp.482~488 (2012)
  2. Kim OY, "A case of nonfamilial benign recurrent intrahepatic cholestasis", Korean J Hepatol, 4, pp.188~193 (1998)
  3. 고재성, "신생아 담즙정체의 원인질환", Korean Journal of Pediatrics, 50(9), pp.835~840 (2007), 대한소아과학회
  4. Klomp LW, "Characterization of mutations in ATP8B1 associated with hereditary cholestasis", Hepatology, 40, pp.27~38 (2004)
  5. van der Woerd WL, "Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy", Best Pract Res Clin Gastroenterol, 24, pp.541~553 (2010)
  6. Lykavieris P, "Progressive familial intrahepatic cholestasis type 1 and extrahepatic features: no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantation", J Hepatol, 39, pp.447~452 (2003)
  7. Summerskill WH, "Benign recurrent intrahepatic "obstructive" jaundice", Lancet, 2, pp.686~690 (1959)
  8. Tygstrup N, "Intermittent intrahepatic cholestasis of unknown etiology in five young males from the Faroe Islands", Acta Med Scand, 185, pp.523~530 (1969)
  9. Houwen RH, "Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis.", Nat Genet, 8, pp.380~386 (1994)
  10. Bull LN, "A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis", Nat Genet, 18, pp.219~224 (1998)
  11. Stapelbroek JM, "Liver disease associated with canalicular transport defects: current and future therapies", J Hepatol, 52, pp.258~271 (2010)
  12. Davit-Spraul A, "Progressive familial intrahepatic cholestasis", Orphanet J Rare Dis, 4, pp.1~ (2009)
  13. Liu LY, "Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT", J Pediatr Gastroenterol Nutr, (50), pp.179~183 (2010)
  14. Bull LN, "Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC", Hum Genet, 104, pp.241~248 (1999)
  15. Tygstrup N, "Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity", Hepatology, 29, pp.506~508 (1999)
  16. Mezey E, "A case of severe benign intrahepatic cholestasis treated with liver transplantation", Am J Gastroenterol, 97, pp.475~477 (2002)
  17. van Mil SW, "FIC1 disease: a spectrum of intrahepatic cholestatic disorders", Semin Liver Dis, 21, pp.535~544 (2001)
  18. van Ooteghem NA, "Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum", J Hepatol, 36, pp.439~443 (2002)
  19. van Mil SW, "Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11", Gastroenterology, 127, pp.379~384 (2004)

관련 논문AI추천

Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1Beom Hee Lee, Eun Sang Rhee, Han-Wook Yoo, Kyung Mo Kim, Seak Hee Oh, Sunghee Lee, Yu Bin Kim대한소아소화기영양학회 · Pediatric Gastroenterology, Hepatology & Nutrition2019 · 제22권 제5호Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations문진수, Gyeong Hoon Kang, Jae Sung Ko, Min Hyung Woo, Min Ji Sohn, Moon-Woo Seong, Sung Sup Park대한소아소화기영양학회 · Pediatric Gastroenterology, Hepatology & Nutrition2019 · 제22권 제2호Progressive Familial Intrahepatic Cholestasis in Korea: A Clinicopathological Study of Five Patients강효정, 김경모, 김구환, 오석희, 유은실, 유한욱, 홍순억대한병리학회 · Journal of Pathology and Translational Medicine2019 · 제53권 제4호Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South ChinaHuiying Sheng, Jing Cheng, Li Liu, Ruizhu Lin, Wen Zhang, Xiaojian Mao, Xiuzhen Li, Yanna Cai, Yi Xu, Zhikun Lu대한소아소화기영양학회 · Pediatric Gastroenterology, Hepatology & Nutrition2020 · 제23권 제6호Early Diagnosis of ABCB11 Spectrum Liver Disorders by Next Generation Sequencing김정은, 배한익, 서안나, 이수정, 최병호, 황수경대한소아소화기영양학회 · Pediatric Gastroenterology, Hepatology & Nutrition2017 · 제20권 제2호Genetic Variants and Long-Term Outcomes in Korean Children with Progressive Familial Intrahepatic CholestasisJae Sung Ko, Jeong Eun Ahn, Jin Soo Moon, Kyung Jae Lee, Lia Kim, Minsoo Shin, Shinjie Choi, Sunwoo Park, Yeji Kim대한소아소화기영양학회 · Pediatric Gastroenterology, Hepatology & Nutrition2025 · 제28권 제4호

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