Case Report of Intrahepatic Cholestasis Associated with ATP8B1 Gene Mutation in a Patient with Human Immunodeficiency Virus (HIV) Infection: A Diagnostic Challenge

Darwin Jhoan Ariza-Rodríguez; Valentina Dávila; Carmen Yanette Suárez-Quintero; Sandra Amado-Garzón.

doi:10.22516/25007440.1120

Case Report of Intrahepatic Cholestasis Associated with ATP8B1 Gene Mutation in a Patient with Human Immunodeficiency Virus (HIV) Infection: A Diagnostic Challenge

Darwin Jhoan Ariza-Rodríguez
, Valentina Dávila
, Carmen Yanette Suárez-Quintero
, Sandra Amado-Garzón.

Hospital Universitario San Ignacio

Research output: Contribution to journal › Article › peer-review

Abstract

Benign recurrent intrahepatic cholestasis (BRIC) is a rare condition that is part of a spectrum of disorders known as familial intrahepatic cholestasis. It is characterized by episodes of cholestasis lasting weeks to months with complete resolution between episodes. BRIC is associated with a good prognosis compared to other conditions, due to its later onset and lower association with fibrosis. Diagnosis is one of exclusion, posing a diagnostic challenge that requires a high index of suspicion and is confirmed by identifying the ATP8B1 gene mutation. This report presents the case of a patient with human immunodeficiency virus (HIV) who developed severe intrahepatic cholestasis and had a history of recurrent jaundice throughout his life. After extensive studies of intrahepatic cholestasis, he was diagnosed with symptomatic BRIC with the ATP8B1 gene mutation.

Translated title of the contribution	Reporte de caso de colestasis intrahepática asociada a mutación del gen ATP8B1 en un paciente con infección por virus de la inmunodeficiencia humana (VIH): un reto diagnóstico
Original language	English
Pages (from-to)	323-327
Number of pages	5
Journal	Revista Colombiana de Gastroenterologia
Volume	39
Issue number	3
DOIs	https://doi.org/10.22516/25007440.1120
State	Published - 01 Jul 2024
Externally published	Yes

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Jaundice
intrahepatic cholestasis
mutation

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10.22516/25007440.1120

Cite this

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title = "Case Report of Intrahepatic Cholestasis Associated with ATP8B1 Gene Mutation in a Patient with Human Immunodeficiency Virus (HIV) Infection: A Diagnostic Challenge",

abstract = "Benign recurrent intrahepatic cholestasis (BRIC) is a rare condition that is part of a spectrum of disorders known as familial intrahepatic cholestasis. It is characterized by episodes of cholestasis lasting weeks to months with complete resolution between episodes. BRIC is associated with a good prognosis compared to other conditions, due to its later onset and lower association with fibrosis. Diagnosis is one of exclusion, posing a diagnostic challenge that requires a high index of suspicion and is confirmed by identifying the ATP8B1 gene mutation. This report presents the case of a patient with human immunodeficiency virus (HIV) who developed severe intrahepatic cholestasis and had a history of recurrent jaundice throughout his life. After extensive studies of intrahepatic cholestasis, he was diagnosed with symptomatic BRIC with the ATP8B1 gene mutation.",

keywords = "Jaundice, intrahepatic cholestasis, mutation",

author = "Ariza-Rodr{\'i}guez, \{Darwin Jhoan\} and Valentina D{\'a}vila and Su{\'a}rez-Quintero, \{Carmen Yanette\} and Sandra Amado-Garz{\'o}n.",

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year = "2024",

month = jul,

day = "1",

doi = "10.22516/25007440.1120",

language = "English",

volume = "39",

pages = "323--327",

journal = "Revista Colombiana de Gastroenterologia",

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Case Report of Intrahepatic Cholestasis Associated with ATP8B1 Gene Mutation in a Patient with Human Immunodeficiency Virus (HIV) Infection: A Diagnostic Challenge. / Ariza-Rodríguez, Darwin Jhoan; Dávila, Valentina; Suárez-Quintero, Carmen Yanette et al.
In: Revista Colombiana de Gastroenterologia, Vol. 39, No. 3, 01.07.2024, p. 323-327.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Case Report of Intrahepatic Cholestasis Associated with ATP8B1 Gene Mutation in a Patient with Human Immunodeficiency Virus (HIV) Infection

T2 - A Diagnostic Challenge

AU - Ariza-Rodríguez, Darwin Jhoan

AU - Dávila, Valentina

AU - Suárez-Quintero, Carmen Yanette

AU - Amado-Garzón., Sandra

PY - 2024/7/1

Y1 - 2024/7/1

N2 - Benign recurrent intrahepatic cholestasis (BRIC) is a rare condition that is part of a spectrum of disorders known as familial intrahepatic cholestasis. It is characterized by episodes of cholestasis lasting weeks to months with complete resolution between episodes. BRIC is associated with a good prognosis compared to other conditions, due to its later onset and lower association with fibrosis. Diagnosis is one of exclusion, posing a diagnostic challenge that requires a high index of suspicion and is confirmed by identifying the ATP8B1 gene mutation. This report presents the case of a patient with human immunodeficiency virus (HIV) who developed severe intrahepatic cholestasis and had a history of recurrent jaundice throughout his life. After extensive studies of intrahepatic cholestasis, he was diagnosed with symptomatic BRIC with the ATP8B1 gene mutation.

AB - Benign recurrent intrahepatic cholestasis (BRIC) is a rare condition that is part of a spectrum of disorders known as familial intrahepatic cholestasis. It is characterized by episodes of cholestasis lasting weeks to months with complete resolution between episodes. BRIC is associated with a good prognosis compared to other conditions, due to its later onset and lower association with fibrosis. Diagnosis is one of exclusion, posing a diagnostic challenge that requires a high index of suspicion and is confirmed by identifying the ATP8B1 gene mutation. This report presents the case of a patient with human immunodeficiency virus (HIV) who developed severe intrahepatic cholestasis and had a history of recurrent jaundice throughout his life. After extensive studies of intrahepatic cholestasis, he was diagnosed with symptomatic BRIC with the ATP8B1 gene mutation.

KW - Jaundice

KW - intrahepatic cholestasis

KW - mutation

UR - https://www.scopus.com/pages/publications/85207517099

U2 - 10.22516/25007440.1120

DO - 10.22516/25007440.1120

M3 - Article

AN - SCOPUS:85207517099

SN - 0120-9957

VL - 39

SP - 323

EP - 327

JO - Revista Colombiana de Gastroenterologia

JF - Revista Colombiana de Gastroenterologia

IS - 3

ER -

Case Report of Intrahepatic Cholestasis Associated with ATP8B1 Gene Mutation in a Patient with Human Immunodeficiency Virus (HIV) Infection: A Diagnostic Challenge

Abstract

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Keywords

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