scholarly journals AN UNUSUAL CASE OF BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS

2021 ◽  
pp. 1-2
Author(s):  
Divya Shanagonda ◽  
Srinivasan Ramadurai ◽  
G Sowmya ◽  
Preetam Arthur
Keyword(s):  
Liver Injury ◽  
Complete Remission ◽  
Plasma Exchange ◽  
Intrahepatic Cholestasis ◽  
Unusual Case ◽  
Genetic Disorder ◽  
Significant Morbidity ◽  
Progressive Familial Intrahepatic Cholestasis ◽  
Rare Genetic Disorder ◽  
Benign Recurrent Intrahepatic Cholestasis

Benign intrahepatic cholestasis (BRIC) is a rare genetic disorder characterized by episodic cholestasis. Each episode is characterized by repeated episodes of jaundice, intense pruritis last for weeks to months with complete remission. Although each episode is associated with significant morbidity, progressive liver injury and cirrhosis do not occur. In recent studies, few patients progressed to Progressive familial intrahepatic cholestasis. Here we report a case of 19 years boy with benign intrahepatic cholestasis due to an undulant course terminated by plasma exchange.

scholarly journals Xenobiotic Nuclear Receptor Signaling Determines Molecular Pathogenesis of Progressive Familial Intrahepatic Cholestasis

Endocrinology ◽  
2018 ◽  
Vol 159 (6) ◽  
pp. 2435-2446 ◽  
Author(s):  
Kang Ho Kim ◽  
Jong Min Choi ◽  
Feng Li ◽  
Armando Arizpe ◽  
Clavia Ruth Wooton-Kee ◽  
...  
Keyword(s):  
Liver Injury ◽  
Intrahepatic Cholestasis ◽  
Constitutive Androstane Receptor ◽  
Pregnane X Receptor ◽  
Acid Synthesis ◽  
Molecular Pathogenesis ◽  
Farnesoid X Receptor ◽  
Loss Of Function ◽  
Double Knockout ◽  
Progressive Familial Intrahepatic Cholestasis

Abstract Progressive familial intrahepatic cholestasis (PFIC) is a genetically heterogeneous disorder of bile flow disruption due to abnormal canalicular transport or impaired bile acid (BA) metabolism, causing excess BA accumulation and liver failure. We previously reported an intrahepatic cholestasis mouse model based on loss of function of both farnesoid X receptor (FXR; NR1H4) and a small heterodimer partner (SHP; NR0B2) [double knockout (DKO)], which has strong similarities to human PFIC5. We compared the pathogenesis of DKO livers with that of another intrahepatic cholestasis model,Bsep−/−, which represents human PFIC2. Both models exhibit severe hepatomegaly and hepatic BA accumulation, but DKO showed greater circulating BA and liver injury, andBsep−/− had milder phenotypes. Molecular profiling of BAs uncovered specific enrichment of cholic acid (CA)–derived BAs in DKO livers but chenodeoxycholate-derived BAs inBsep−/− livers. Transcriptomic and proteomic analysis revealed specific activation of CA synthesis and alternative basolateral BA transport in DKO but increased chenodeoxycholic acid synthesis and canalicular transport inBsep−/−. The constitutive androstane receptor (CAR)/pregnane X receptor (PXR)–CYP2B/CYP2C axis is activated in DKO livers but not in other cholestasis models. Loss of this axis inFxr:Shp:Car:Pxr quadruple knockouts blockedCyp2b/Cyp2c gene induction, impaired bilirubin conjugation/elimination, and increased liver injury. Differential CYP2B expression in DKO andBsep−/− was recapitulated in human PFIC5 and PFIC2 livers. In conclusion, loss of FXR/SHP results in distinct molecular pathogenesis and CAR/PXR activation, which promotesCyp2b/Cyp2c gene transcription and bilirubin clearance. CAR/PXR activation was not observed inBsep−/− mice or PFIC2 patients. These findings provide a deeper understanding of the heterogeneity of intrahepatic cholestasis.

scholarly journals Triggers of benign recurrent intrahepatic cholestasis and its pathophysiology: a review of literature

2021 ◽  
Vol 84 (3) ◽  
Author(s):  
A Halawi ◽  
N Ibrahim ◽  
R Bitar
Keyword(s):  
Intrahepatic Cholestasis ◽  
Case Reports ◽  
Genetic Disorder ◽  
First Episode ◽  
Trigger Factors ◽  
Oral Contraceptive Pills ◽  
Contraceptive Pills ◽  
Benign Recurrent Intrahepatic Cholestasis ◽  
Cholestasis Of Pregnancy

Benign recurrent intrahepatic cholestasis (BRIC) is a rare genetic disorder that is characterized by episodes of cholestasis followed by complete resolution. The episodic nature of BRIC raises concerns about its possible trigger factors. Indeed, case reports of this orphan disease have associated BRIC to some triggers. In the absence of any reviews, we reviewed BRIC trigger factors and its pathophysiology. The study consisted of a systematic search for case reports using PubMed. Articles describing a clear case of BRIC associated with a trigger were included resulting in 22 articles that describe 35 patients. Infection was responsible for 54.3% of triggered episodes, followed by hormonal, drugs, and miscellaneous causes reporting as 30%, 10%, and 5.7% respectively. Females predominated with 62.9%. The longest episode ranged between 3 months to 2 years with a mean of 32.37 weeks. The mean age of the first episode was 14.28 ranging between 3 months to 48 years. Winter and autumn were the major seasons during which episodes happened. Hence, BRIC is potentially triggered by infection, which is most commonly a viral infection, hormonal disturbances as seen in oral contraceptive pills and pregnancy state, and less commonly by certain drugs and other causes. The appearance of cholestasis during the first two trimesters of pregnancy compared to intrahepatic cholestasis of pregnancy could help to differentiate between the two conditions. The possible mechanism of BRIC induction implicates a role of BSEP and ATP8B1. While estrogen, drugs, and cytokines are known to affect BSEP, less is known about their action on ATP8B1.

scholarly journals Reversal of portal gastropathy with partial internal biliary diversion in a case of progressive familial intrahepatic cholestasis

2021 ◽  
Vol 2021 (3) ◽  
Author(s):  
Arkadeep Dhali ◽  
B Rathna Roger ◽  
Elaina Pasangha ◽  
Christopher D'Souza ◽  
Gopal Krishna Dhali
Keyword(s):  
Liver Disease ◽  
Early Diagnosis ◽  
Liver Transplant ◽  
Intrahepatic Cholestasis ◽  
Genetic Disorder ◽  
Disease Diagnosis ◽  
End Stage Liver Disease ◽  
Rare Genetic Disorder ◽  
Biliary Diversion ◽  
End Stage

Progressive intrahepatic cholestasis is a rare, genetic disorder causing bile acid secretion or transport defects. It can result in intrahepatic cholestasis that can progress to end-stage liver disease. Diagnosis is made using a combination of clinical and biochemical approaches. Genetic testing is currently the gold standard for investigation. We report a case of an 18-month-old male child with cholestatic pattern of jaundice from 16 months of life, which was associated with features suggestive of portal gastropathy. Detailed workup led to the diagnosis of progressive intrahepatic cholestasis (type 2). Early diagnosis prevented the need for liver transplant, and the child underwent surgical treatment with partial internal biliary diversion. Portal gastropathy and disease progression dramatically changed with corrective surgery. The patient was symptom-free at 10-week follow-up. Detecting this rare genetic disorder early has very good therapeutic implications from the patient's perspective and their morbidity and mortality profile; if untreated, it has a high propensity to progress to end-stage liver disease. The requirement of surgical interventions and liver transplantation is individualized on a case-to-case basis. An early diagnosis and initiation of treatment can prevent the need for a liver transplant as shown in the present case.

scholarly journals Progressive Familial Intrahepatic Cholestasis: A Rare Cause of Cirrhosis in Young Adult Patients

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Gavin R. Sun ◽  
Michele Burns
Keyword(s):  
Portal Hypertension ◽  
Intrahepatic Cholestasis ◽  
Unusual Case ◽  
Early Adulthood ◽  
Clinical Approach ◽  
Laboratory Findings ◽  
Progressive Familial Intrahepatic Cholestasis ◽  
Bacterial Peritonitis ◽  
Complications Of Cirrhosis ◽  
Type 3

Hepatic cirrhosis is an important cause of morbidity and mortality. An unusual case of cirrhosis and portal hypertension in an 18-year-old patient secondary to Progressive Intrahepatic Cholestasis is discussed. The clinical and biochemical findings are discussed and a clinical approach to determining the underlying etiology of cirrhosis is outlined. Significant complications of portal hypertension include ascites, spontaneous bacterial peritonitis, hepatorenal syndrome, varices, and hepatic encephalopathy. A clinical approach to these complications of cirrhosis is presented. Progressive Familial Intrahepatic Cholestasis (PFIC) is a rare congenital metabolic abnormality. There are 3 subtypes and Type 3 PFIC commonly presents in late adolescence and early adulthood. Clinical and laboratory findings as well as management for the condition are described.

Laron syndrome – A case Report

JMS SKIMS ◽  
2017 ◽  
Vol 20 (2) ◽  
pp. 104-106
Author(s):  
Javaid Ahmad Bhat ◽  
Moomin Hussain Bhat ◽  
Hilal Bhat ◽  
Mona Sood ◽  
Shariq Rashid Masoodi
Keyword(s):  
Growth Hormone ◽  
Case Report ◽  
Hormone Receptor ◽  
Growth Hormone Receptor ◽  
Genetic Disorder ◽  
Female Child ◽  
Receptor Signaling ◽  
Laron Syndrome ◽  
Rare Genetic Disorder ◽  
Igf I

Background : Laron & colleagues (1966) reported a rare genetic disorder in Israliei Jewish sublings which was characterized by insensitivity to growth hormone due to abnormality in growth hormone receptor or post receptor signaling pathway.Case Report: We hereby report a case of a 5 year old female child who presented to us with features similar to Laron syndrome. The diagnosis was made & confirmed by various Lab. investigations like low IGF-I levels and managed accordingly. JMS 2017; 20 (2):104-106  

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