Newer variants of progressive familial intrahepatic cholestasis.
Biliary diversion
Hepatocellular carcinoma
Microvillous inclusion disease
Progressive familial intrahepatic cholestasis
Tight junction protein
Journal
World journal of hepatology
ISSN: 1948-5182
Titre abrégé: World J Hepatol
Pays: United States
ID NLM: 101532469
Informations de publication
Date de publication:
27 Dec 2021
27 Dec 2021
Historique:
received:
22
05
2021
revised:
19
08
2021
accepted:
04
11
2021
entrez:
24
1
2022
pubmed:
25
1
2022
medline:
25
1
2022
Statut:
ppublish
Résumé
Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of disorders characterized by defects in bile secretion and presentation with intrahepatic cholestasis in infancy or childhood. The most common types include PFIC 1 (deficiency of FIC1 protein, ATP8B1 gene mutation), PFIC 2 (bile salt export pump deficiency, ABCB11 gene mutation), and PFIC 3 (multidrug resistance protein-3 deficiency, ABCB4 gene mutation). Mutational analysis of subjects with normal gamma-glutamyl transferase cholestasis of unknown etiology has led to the identification of newer variants of PFIC, known as PFIC 4, 5, and MYO5B related (sometimes known as PFIC 6). PFIC 4 is caused by the loss of function of tight junction protein 2 (TJP2) and PFIC 5 is due to NR1H4 mutation causing Farnesoid X receptor deficiency. MYO5B gene mutation causes microvillous inclusion disease (MVID) and is also associated with isolated cholestasis. Children with TJP2 related cholestasis (PFIC-4) have a variable spectrum of presentation. Some have a self-limiting disease, while others have progressive liver disease with an increased risk of hepatocellular carcinoma. Hence, frequent surveillance for hepatocellular carcinoma is recommended from infancy. PFIC-5 patients usually have rapidly progressive liver disease with early onset coagulopathy, high alpha-fetoprotein and ultimately require a liver transplant. Subjects with MYO5 B-related disease can present with isolated cholestasis or cholestasis with intractable diarrhea (MVID). These children are at risk of worsening cholestasis post intestinal transplant (IT) for MVID, hence combined intestinal and liver transplant or IT with biliary diversion is preferred. Immunohistochemistry can differentiate most of the variants of PFIC but confirmation requires genetic analysis.
Identifiants
pubmed: 35070006
doi: 10.4254/wjh.v13.i12.2024
pmc: PMC8727216
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
2024-2038Informations de copyright
©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
Déclaration de conflit d'intérêts
Conflict-of-interest statement: The authors declare that they do not have any conflict of interest to disclose.
Références
Ital J Pediatr. 2014 Sep 20;40:77
pubmed: 25239142
Clin Res Hepatol Gastroenterol. 2018 Apr;42(2):103-109
pubmed: 29031874
J Pediatr Gastroenterol Nutr. 2020 Aug;71(2):184-188
pubmed: 32304554
Genet Med. 2019 May;21(5):1164-1172
pubmed: 30250217
J Clin Exp Hepatol. 2014 Mar;4(1):25-36
pubmed: 25755532
Hepatology. 2017 May;65(5):1655-1669
pubmed: 28027573
BMJ Case Rep. 2020 Jul 6;13(7):
pubmed: 32636225
J Inherit Metab Dis. 2021 Jan;44(1):110-117
pubmed: 32740958
BMC Med Genet. 2019 Jan 18;20(1):18
pubmed: 30658709
Nat Genet. 2003 May;34(1):91-6
pubmed: 12704386
Mol Biol Cell. 2001 Jun;12(6):1843-57
pubmed: 11408590
World J Gastroenterol. 2020 Feb 7;26(5):550-561
pubmed: 32089630
Hum Mutat. 2020 Feb;41(2):502-511
pubmed: 31696999
Nat Rev Gastroenterol Hepatol. 2019 Jun;16(6):346-360
pubmed: 30903105
Semin Pediatr Surg. 2020 Aug;29(4):150946
pubmed: 32861450
Clin Res Hepatol Gastroenterol. 2019 Feb;43(1):20-36
pubmed: 30236549
Indian J Pediatr. 2016 Nov;83(11):1311-1320
pubmed: 26932879
Orphanet J Rare Dis. 2009 Jan 08;4:1
pubmed: 19133130
J Pediatr Gastroenterol Nutr. 2020 Aug;71(2):176-183
pubmed: 32433433
J Clin Med. 2021 Jan 28;10(3):
pubmed: 33525641
Orphanet J Rare Dis. 2018 Oct 29;13(1):190
pubmed: 30373615
Proc Natl Acad Sci U S A. 1991 Apr 15;88(8):3460-4
pubmed: 2014265
Nat Commun. 2016 Feb 18;7:10713
pubmed: 26888176
Gastroenterology. 2007 Aug;133(2):507-16
pubmed: 17681172
J Cell Biol. 1998 Jun 29;141(7):1539-50
pubmed: 9647647
J Biol Chem. 2003 Dec 19;278(51):51085-90
pubmed: 14527955
Virchows Arch. 2017 Nov;471(5):679-683
pubmed: 28733884
Liver Int. 2020 May;40(5):1142-1150
pubmed: 32124521
Pediatr Clin North Am. 2017 Jun;64(3):621-639
pubmed: 28502442
Dig Dis. 2015;33(3):327-31
pubmed: 26045265
Clin Res Hepatol Gastroenterol. 2012 Sep;36 Suppl 1:S26-35
pubmed: 23141890
Hepatology. 2014 Jul;60(1):301-10
pubmed: 24375397
Tissue Barriers. 2015 Mar 17;3(3):e1026537
pubmed: 26451340
Hepatobiliary Pancreat Dis Int. 2010 Dec;9(6):570-8
pubmed: 21134824
J Pediatr Gastroenterol Nutr. 2020 Jun;70(6):e111-e113
pubmed: 32443034
Sci Rep. 2017 Sep 18;7(1):11823
pubmed: 28924228
J Pediatr. 2016 Apr;171:171-7.e1-4
pubmed: 26858187
Semin Perinatol. 2016 Feb;40(1):44-55
pubmed: 26718445
Nat Genet. 2014 Apr;46(4):326-8
pubmed: 24614073
Cell. 1995 Jun 2;81(5):687-93
pubmed: 7774010
Dig Dis. 2010;28(1):220-4
pubmed: 20460915
J Pediatr. 2019 Feb;205:153-159.e6
pubmed: 30366773
Clin Liver Dis. 2018 Nov;22(4):625-641
pubmed: 30266153
Hepatology. 2017 Jan;65(1):164-173
pubmed: 27532546
Hepatobiliary Pancreat Dis Int. 2020 Feb;19(1):80-84
pubmed: 31558365
Proc Natl Acad Sci U S A. 1998 Jan 6;95(1):282-7
pubmed: 9419367
Br J Dermatol. 2010 Jul;163(1):205-7
pubmed: 20645982