Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum

Ooteghem, Nancy Am; Klomp, Leo W. J.; Berge‐Henegouwen, G. P. Van; Houwen, Roderick H. J.

doi:10.1016/s0168-8278(01)00299-9

Cited by 130 publications

(96 citation statements)

References 42 publications

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“…Until recently, it was thought that FIC1 disease resulted from a primary deficiency in bile salt secretion from the liver (4,5), but there is increasing evidence that other tissues play a role in this disease. The cholestasis completely resolved in two PFIC1 patients after biliary diversion (21) and in several patients treated by liver transplantation (18), but the children displayed severe diarrhea, failure to achieve catch-up growth, and appearance of steatosis in the new liver (20). Interestingly, many FIC1 disease patients also develop pancreatitis (33)(34)(35)(36)(37).…”

Section: Fic1 Expression During Ontogenesismentioning

confidence: 99%

FIC1 Is Expressed at Apical Membranes of Different Epithelial Cells in the Digestive Tract and Is Induced in the Small Intestine During Postnatal Development of Mice

Mil¹,

Oort²,

Berg³

et al. 2004

Pediatr Res

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Section: Fic1 Expression During Ontogenesismentioning

confidence: 99%

FIC1 Is Expressed at Apical Membranes of Different Epithelial Cells in the Digestive Tract and Is Induced in the Small Intestine During Postnatal Development of Mice

Mil¹,

Oort²,

Berg³

et al. 2004

Pediatr Res

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“…It is thought that BRIC and PFIC are 2 ends of a continuum. In some cases BRIC could progress into PFIC, however, the inner mechanism is still unclear (8,9). All 3 …”

Section: Discussionmentioning

confidence: 99%

The Identification of Two New ABCB11 Gene Mutations and the Treatment Outcome in a Young Adult with Benign Recurrent Intrahepatic Cholestasis: A Case Report

Gao

Lin

et al. 2017

Hepat Mon

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Introduction: Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive disease characterized by recurrent episodes of severe pruritus and jaundice. Although the disease symptom will relieve spontaneously without leaving any hepatic injury, the ceaseless attacks would reduce the life quality of patients. However, there is not a validated treatment for BRIC yet. Considering the limited cases and the unpredictability of this disease, the publications of well-described case reports are necessary for the investigation of disease development and treatment efficacy.Case Presentation: A 26-year-old Chinese male, with clinical approved and genetic diagnosis of BRIC, experienced 3 attacks of recurrent intrahepatic cholestasis from 2010 to 2016. During hospitalizations, he received symptomatic treatments and plasmapheresis therapies. Both plasma exchange (PE) and plasma bilirubin adsorption (PBA) were conducted for him. The whole-exome sequencing revealed several single nucleotide polymorphisms (SNPs) as well as 2 novel mutations in ABCB11 (c.70A > T, p.Lys24*, exon2 and c.1417G > A, p.Asp473Asn, exon13). These SNPs and mutations might be associated with the BRIC development. Conclusions:Both medications and plasmapheresis interventions could relieve the patient's symptoms, however, neither could shorten the natural process of the disease. The 2 mutations (c.70A > T and c.1417G > A) in ABCB11 were first reported in a BRIC patient.

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“…Our hypothesis is possibility of progression to PFIC. Occasionally BRIC will progress to the more severe and permanent form of PFIC, indicative of a clinical continuum, with intermediate phenotypes between mild and progressive disease [17][18][19]. Another hypothesis is a long duration of attack.…”

Section: Discussionmentioning

confidence: 99%

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

Lee

Kim

et al. 2012

Pediatr Gastroenterol Hepatol Nutr

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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.

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Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum

Cited by 130 publications

References 42 publications

FIC1 Is Expressed at Apical Membranes of Different Epithelial Cells in the Digestive Tract and Is Induced in the Small Intestine During Postnatal Development of Mice

FIC1 Is Expressed at Apical Membranes of Different Epithelial Cells in the Digestive Tract and Is Induced in the Small Intestine During Postnatal Development of Mice

The Identification of Two New ABCB11 Gene Mutations and the Treatment Outcome in a Young Adult with Benign Recurrent Intrahepatic Cholestasis: A Case Report

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

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