Benign recurrent intrahepatic cholestasis - 2 (BRIC-2)/ABCB11 deficiency in a young child – Report from a tertiary care center in South India

ABCB11 deficiency, formerly benign recurrent intrahepatic cholestasis (BRIC) is a very rare hereditary disorder characterized by the recurrent and intermittent episodes of cholestasis, jaundice, and pruritus. We report the case of a 12-year-old boy presenting with recurrent episodes of jaundice and...

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Autores principales:	K V Kalaranjini, Jinu A Glaxon, Sheela Vasudevan, M L Arunkumar
Formato:	article
Lenguaje:	EN
Publicado:	Wolters Kluwer Medknow Publications 2021
Materias:	abcb11 benign recurrent intrahepatic cholestasis cholestasis cirrhosis jaundice Pathology RB1-214 Microbiology QR1-502
Acceso en línea:	https://doaj.org/article/0c72f70da8ce45fc8385a256521a78b7
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spelling	oai:doaj.org-article:0c72f70da8ce45fc8385a256521a78b72021-12-02T19:23:04ZBenign recurrent intrahepatic cholestasis - 2 (BRIC-2)/ABCB11 deficiency in a young child – Report from a tertiary care center in South India0377-492910.4103/IJPM.IJPM_254_20https://doaj.org/article/0c72f70da8ce45fc8385a256521a78b72021-01-01T00:00:00Zhttp://www.ijpmonline.org/article.asp?issn=0377-4929;year=2021;volume=64;issue=5;spage=146;epage=148;aulast=Kalaranjinihttps://doaj.org/toc/0377-4929ABCB11 deficiency, formerly benign recurrent intrahepatic cholestasis (BRIC) is a very rare hereditary disorder characterized by the recurrent and intermittent episodes of cholestasis, jaundice, and pruritus. We report the case of a 12-year-old boy presenting with recurrent episodes of jaundice and severe pruritis since childhood. An extensive workup was done to rule out all the possible etiologies. Liver biopsy was done and histopathology was consistent with intrahepatic cholestasis. Immunohistochemistry, enzyme studies, and genetic testing confirmed the diagnosis. The patient was treated with Ursodeoxycholicacid and is on regular follow-up. We report this case due to the rarity of the disease in South India and to highlight the importance of genetic testing, which is the gold standard for diagnosis as well as for the classification of the disease. These patients should be under regular follow-up as those with fibrosis progression are at a risk for cholangiocarcinoma and hepatocellular carcinoma.K V KalaranjiniJinu A GlaxonSheela VasudevanM L ArunkumarWolters Kluwer Medknow Publicationsarticleabcb11benign recurrent intrahepatic cholestasischolestasiscirrhosisjaundicePathologyRB1-214MicrobiologyQR1-502ENIndian Journal of Pathology and Microbiology, Vol 64, Iss 5, Pp 146-148 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	abcb11 benign recurrent intrahepatic cholestasis cholestasis cirrhosis jaundice Pathology RB1-214 Microbiology QR1-502
spellingShingle	abcb11 benign recurrent intrahepatic cholestasis cholestasis cirrhosis jaundice Pathology RB1-214 Microbiology QR1-502 K V Kalaranjini Jinu A Glaxon Sheela Vasudevan M L Arunkumar Benign recurrent intrahepatic cholestasis - 2 (BRIC-2)/ABCB11 deficiency in a young child – Report from a tertiary care center in South India
description	ABCB11 deficiency, formerly benign recurrent intrahepatic cholestasis (BRIC) is a very rare hereditary disorder characterized by the recurrent and intermittent episodes of cholestasis, jaundice, and pruritus. We report the case of a 12-year-old boy presenting with recurrent episodes of jaundice and severe pruritis since childhood. An extensive workup was done to rule out all the possible etiologies. Liver biopsy was done and histopathology was consistent with intrahepatic cholestasis. Immunohistochemistry, enzyme studies, and genetic testing confirmed the diagnosis. The patient was treated with Ursodeoxycholicacid and is on regular follow-up. We report this case due to the rarity of the disease in South India and to highlight the importance of genetic testing, which is the gold standard for diagnosis as well as for the classification of the disease. These patients should be under regular follow-up as those with fibrosis progression are at a risk for cholangiocarcinoma and hepatocellular carcinoma.
format	article
author	K V Kalaranjini Jinu A Glaxon Sheela Vasudevan M L Arunkumar
author_facet	K V Kalaranjini Jinu A Glaxon Sheela Vasudevan M L Arunkumar
author_sort	K V Kalaranjini
title	Benign recurrent intrahepatic cholestasis - 2 (BRIC-2)/ABCB11 deficiency in a young child – Report from a tertiary care center in South India
title_short	Benign recurrent intrahepatic cholestasis - 2 (BRIC-2)/ABCB11 deficiency in a young child – Report from a tertiary care center in South India
title_full	Benign recurrent intrahepatic cholestasis - 2 (BRIC-2)/ABCB11 deficiency in a young child – Report from a tertiary care center in South India
title_fullStr	Benign recurrent intrahepatic cholestasis - 2 (BRIC-2)/ABCB11 deficiency in a young child – Report from a tertiary care center in South India
title_full_unstemmed	Benign recurrent intrahepatic cholestasis - 2 (BRIC-2)/ABCB11 deficiency in a young child – Report from a tertiary care center in South India
title_sort	benign recurrent intrahepatic cholestasis - 2 (bric-2)/abcb11 deficiency in a young child – report from a tertiary care center in south india
publisher	Wolters Kluwer Medknow Publications
publishDate	2021
url	https://doaj.org/article/0c72f70da8ce45fc8385a256521a78b7
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Benign recurrent intrahepatic cholestasis - 2 (BRIC-2)/ABCB11 deficiency in a young child – Report from a tertiary care center in South India

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