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Benign recurrent intrahepatic cholestasis type 2(BRIC2)

MedGen UID:
435857
Concept ID:
C2608083
Disease or Syndrome
Synonyms: BRIC2; Recurrent familial intrahepatic cholestasis 2
 
Gene (location): ABCB11 (2q31.1)
 
Monarch Initiative: MONDO:0011559
OMIM®: 605479
Orphanet: ORPHA99961

Disease characteristics

Excerpted from the GeneReview: ATP8B1 Deficiency
The phenotypic spectrum of ATP8B1 deficiency ranges from severe through moderate to mild. Severe ATP8B1 deficiency is characterized by infantile-onset cholestasis that progresses to cirrhosis, hepatic failure, and early death. Although mild-to-moderate ATP8B1 deficiency initially was thought to involve intermittent symptomatic cholestasis with a lack of hepatic fibrosis, it is now known that hepatic fibrosis may be present early in the disease course. Furthermore, in some persons with ATP8B1 deficiency the clinical findings can span the phenotypic spectrum, shifting over time from the mild end of the spectrum (episodic cholestasis) to the severe end of the spectrum (persistent cholestasis). Sensorineural hearing loss (SNHL) is common across the phenotypic spectrum. [from GeneReviews]
Authors:
Laura N Bull  |  Raffaella Morotti  |  James E Squires   view full author information

Additional descriptions

From OMIM
Benign recurrent intrahepatic cholestasis-2 (BRIC2) is characterized by intermittent episodes of cholestasis without progression to liver failure. The cholestatic attacks vary in severity and duration and patients are asymptomatic between episodes, both clinically and biochemically (van Mil et al., 2004).  http://www.omim.org/entry/605479
From MedlinePlus Genetics
Benign recurrent intrahepatic cholestasis (BRIC) is characterized by episodes of liver dysfunction called cholestasis. During these episodes, the liver cells have a reduced ability to release a digestive fluid called bile. Because the problems with bile release occur within the liver (intrahepatic), the condition is described as intrahepatic cholestasis. Episodes of cholestasis can last from weeks to months, and the time between episodes, during which there are usually no symptoms, can vary from weeks to years.

The first episode of cholestasis usually occurs in an affected person's teens or twenties. An attack typically begins with severe itchiness (pruritus), followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. Other general signs and symptoms that occur during these episodes include a vague feeling of discomfort (malaise), irritability, nausea, vomiting, and a lack of appetite. A common feature of BRIC is the reduced absorption of fat in the body, which leads to excess fat in the feces (steatorrhea). Because of a lack of fat absorption and loss of appetite, affected individuals often lose weight during episodes of cholestasis.

BRIC is divided into two types, BRIC1 and BRIC2, based on the genetic cause of the condition. The signs and symptoms are the same in both types.

This condition is called benign because it does not cause lasting damage to the liver. However, episodes of liver dysfunction occasionally develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity.  https://medlineplus.gov/genetics/condition/benign-recurrent-intrahepatic-cholestasis

Clinical features

From HPO
Cholelithiasis
MedGen UID:
3039
Concept ID:
C0008350
Disease or Syndrome
Hard, pebble-like deposits that form within the gallbladder.
Intrahepatic cholestasis
MedGen UID:
3042
Concept ID:
C0008372
Disease or Syndrome
Impairment of bile flow due to obstruction in the small bile ducts within the liver.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Jaundice
MedGen UID:
43987
Concept ID:
C0022346
Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Conjugated hyperbilirubinemia
MedGen UID:
82787
Concept ID:
C0268307
Disease or Syndrome
Abnormally high level of conjugated bilirubin in the blood.
Elevated circulating alkaline phosphatase concentration
MedGen UID:
727252
Concept ID:
C1314665
Finding
Abnormally increased serum levels of alkaline phosphatase activity.
Pruritus
MedGen UID:
19534
Concept ID:
C0033774
Sign or Symptom
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBenign recurrent intrahepatic cholestasis type 2
Follow this link to review classifications for Benign recurrent intrahepatic cholestasis type 2 in Orphanet.

Professional guidelines

PubMed

Sohail MI, Dönmez-Cakil Y, Szöllősi D, Stockner T, Chiba P
Int J Mol Sci 2021 Jan 14;22(2) doi: 10.3390/ijms22020784. PMID: 33466755Free PMC Article

Recent clinical studies

Diagnosis

Fotoulaki M, Giza S, Jirsa M, Grammatikopoulos T, Miquel R, Hytiroglou P, Tsitouridis I, Knisely AS
Pediatrics 2019 May;143(5) doi: 10.1542/peds.2018-2146. PMID: 31015375
Imagawa K, Hayashi H, Sabu Y, Tanikawa K, Fujishiro J, Kajikawa D, Wada H, Kudo T, Kage M, Kusuhara H, Sumazaki R
J Hum Genet 2018 May;63(5):569-577. Epub 2018 Mar 5 doi: 10.1038/s10038-018-0431-1. PMID: 29507376
Chen ST, Chen HL, Su YN, Liu YJ, Ni YH, Hsu HY, Chu CS, Wang NY, Chang MH
J Gastroenterol Hepatol 2008 Sep;23(9):1390-3. doi: 10.1111/j.1440-1746.2008.05432.x. PMID: 18853996
Kubitz R, Keitel V, Scheuring S, Köhrer K, Häussinger D
J Clin Gastroenterol 2006 Feb;40(2):171-5. doi: 10.1097/01.mcg.0000196406.15110.60. PMID: 16394881

Therapy

Sohail MI, Dönmez-Cakil Y, Szöllősi D, Stockner T, Chiba P
Int J Mol Sci 2021 Jan 14;22(2) doi: 10.3390/ijms22020784. PMID: 33466755Free PMC Article

Prognosis

Fotoulaki M, Giza S, Jirsa M, Grammatikopoulos T, Miquel R, Hytiroglou P, Tsitouridis I, Knisely AS
Pediatrics 2019 May;143(5) doi: 10.1542/peds.2018-2146. PMID: 31015375
Chen ST, Chen HL, Su YN, Liu YJ, Ni YH, Hsu HY, Chu CS, Wang NY, Chang MH
J Gastroenterol Hepatol 2008 Sep;23(9):1390-3. doi: 10.1111/j.1440-1746.2008.05432.x. PMID: 18853996

Clinical prediction guides

Lam P, Soroka CJ, Boyer JL
Semin Liver Dis 2010 May;30(2):125-33. Epub 2010 Apr 26 doi: 10.1055/s-0030-1253222. PMID: 20422495Free PMC Article
van Mil SW, van der Woerd WL, van der Brugge G, Sturm E, Jansen PL, Bull LN, van den Berg IE, Berger R, Houwen RH, Klomp LW
Gastroenterology 2004 Aug;127(2):379-84. doi: 10.1053/j.gastro.2004.04.065. PMID: 15300568

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