Expanding etiology of progressive familial intrahepatic cholestasis.
Benign recurrent intrahepatic cholestasis
Bile acids
Bile transport
Cholestasis
Drug induced cholestasis
Intrahepatic cholestasis of pregnancy
Progressive familial intrahepatic cholestasis
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 May 2019
27 May 2019
Historique:
received:
12
03
2019
revised:
19
04
2019
accepted:
26
04
2019
entrez:
12
6
2019
pubmed:
12
6
2019
medline:
12
6
2019
Statut:
ppublish
Résumé
Progressive familial intrahepatic cholestasis (PFIC) refers to a disparate group of autosomal recessive disorders that are linked by the inability to appropriately form and excrete bile from hepatocytes, resulting in a hepatocellular form of cholestasis. While the diagnosis of such disorders had historically been based on pattern recognition of unremitting cholestasis without other identified molecular or anatomic cause, recent scientific advancements have uncovered multiple specific responsible proteins. The variety of identified defects has resulted in an ever-broadening phenotypic spectrum, ranging from traditional benign recurrent jaundice to progressive cholestasis and end-stage liver disease. To review current data on defects in bile acid homeostasis, explore the expanding knowledge base of genetic based diseases in this field, and report disease characteristics and management. We conducted a systemic review according to PRISMA guidelines. We performed a Medline/PubMed search in February-March 2019 for relevant articles relating to the understanding, diagnosis, and management of bile acid homeostasis with a focus on the family of diseases collectively known as PFIC. English only articles were accessed in full. The manual search included references of retrieved articles. We extracted data on disease characteristics, associations with other diseases, and treatment. Data was summarized and presented in text, figure, and table format. Genetic-based liver disease resulting in the inability to properly form and secrete bile constitute an important cause of morbidity and mortality in children and increasingly in adults. A growing number of PFIC have been described based on an expanded understanding of biliary transport mechanism defects and the development of a common phenotype. We present a summary of current advances made in a number of areas relevant to both the classically described FIC1 (
Sections du résumé
BACKGROUND
BACKGROUND
Progressive familial intrahepatic cholestasis (PFIC) refers to a disparate group of autosomal recessive disorders that are linked by the inability to appropriately form and excrete bile from hepatocytes, resulting in a hepatocellular form of cholestasis. While the diagnosis of such disorders had historically been based on pattern recognition of unremitting cholestasis without other identified molecular or anatomic cause, recent scientific advancements have uncovered multiple specific responsible proteins. The variety of identified defects has resulted in an ever-broadening phenotypic spectrum, ranging from traditional benign recurrent jaundice to progressive cholestasis and end-stage liver disease.
AIM
OBJECTIVE
To review current data on defects in bile acid homeostasis, explore the expanding knowledge base of genetic based diseases in this field, and report disease characteristics and management.
METHODS
METHODS
We conducted a systemic review according to PRISMA guidelines. We performed a Medline/PubMed search in February-March 2019 for relevant articles relating to the understanding, diagnosis, and management of bile acid homeostasis with a focus on the family of diseases collectively known as PFIC. English only articles were accessed in full. The manual search included references of retrieved articles. We extracted data on disease characteristics, associations with other diseases, and treatment. Data was summarized and presented in text, figure, and table format.
RESULTS
RESULTS
Genetic-based liver disease resulting in the inability to properly form and secrete bile constitute an important cause of morbidity and mortality in children and increasingly in adults. A growing number of PFIC have been described based on an expanded understanding of biliary transport mechanism defects and the development of a common phenotype.
CONCLUSION
CONCLUSIONS
We present a summary of current advances made in a number of areas relevant to both the classically described FIC1 (
Identifiants
pubmed: 31183005
doi: 10.4254/wjh.v11.i5.450
pmc: PMC6547292
doi:
Types de publication
Journal Article
Langues
eng
Pagination
450-463Déclaration de conflit d'intérêts
Conflict-of-interest statement: The authors declare that they do not have any conflict of interest to disclose.
Références
Pediatr Transplant. 1999 Aug;3(3):219-24
pubmed: 10487283
Semin Liver Dis. 2001 Nov;21(4):545-50
pubmed: 11745042
J Pediatr. 2002 Jan;140(1):119-24
pubmed: 11815775
J Hepatol. 2002 Mar;36(3):439-43
pubmed: 11867191
J Biol Chem. 2003 Sep 5;278(36):33920-7
pubmed: 12819193
Eur J Pediatr Surg. 2003 Oct;13(5):307-11
pubmed: 14618520
Hepatology. 2004 Jul;40(1):27-38
pubmed: 15239083
Gastroenterology. 2004 Aug;127(2):379-84
pubmed: 15300568
Gut. 2005 Jun;54(6):829-34
pubmed: 15888793
Hepatology. 2005 Dec;42(6):1399-405
pubmed: 16317669
Hepatology. 2006 Jul;44(1):195-204
pubmed: 16799980
Hepatology. 2006 Aug;44(2):478-86
pubmed: 16871584
J Perinat Med. 2006;34(5):383-91
pubmed: 16965225
Pharmacogenet Genomics. 2007 Jan;17(1):47-60
pubmed: 17264802
Gastroenterology. 2007 Aug;133(2):507-16
pubmed: 17681172
J Pediatr Surg. 2007 Aug;42(8):1337-40
pubmed: 17706492
World J Gastroenterol. 2008 Jan 7;14(1):38-45
pubmed: 18176959
Hepatol Res. 2009 Jun;39(6):625-31
pubmed: 19260995
Front Biosci (Landmark Ed). 2009 Jan 01;14:4242-56
pubmed: 19273348
Hepatology. 2009 Nov;50(5):1597-605
pubmed: 19731236
N Engl J Med. 2009 Oct 1;361(14):1359-67
pubmed: 19797282
Hepatology. 2010 May;51(5):1645-55
pubmed: 20232290
Semin Liver Dis. 2010 May;30(2):134-46
pubmed: 20422496
Pediatr Surg Int. 2010 Aug;26(8):831-4
pubmed: 20563871
Liver Transpl. 2010 Jul;16(7):856-63
pubmed: 20583290
J Hepatol. 2012 Aug;57(2):467-8
pubmed: 22387667
Clin Res Hepatol Gastroenterol. 2012 Dec;36(6):536-53
pubmed: 22795478
Clin Res Hepatol Gastroenterol. 2012 Dec;36(6):569-73
pubmed: 23142591
Compr Physiol. 2013 Jul;3(3):1035-78
pubmed: 23897680
Liver Transpl. 2013 Dec;19(12):1403-10
pubmed: 24115678
Am J Gastroenterol. 2014 Jan;109(1):76-84
pubmed: 24366234
J Pediatr. 2014 May;164(5):1219-1227.e3
pubmed: 24530123
Nat Genet. 2014 Apr;46(4):326-8
pubmed: 24614073
Cancer Genomics Proteomics. 2014 Jan-Feb;11(1):1-12
pubmed: 24633315
J Clin Exp Hepatol. 2014 Mar;4(1):25-36
pubmed: 25755532
J Hepatol. 2015 Apr;62(1 Suppl):S25-37
pubmed: 25920087
Hepatology. 2015 Dec;62(6):1914-6
pubmed: 25921221
J Pediatr Surg. 2016 Mar;51(3):386-9
pubmed: 26382286
Hepatology. 2016 Feb;63(2):524-37
pubmed: 26516723
Biochem Soc Trans. 2015 Oct;43(5):1003-10
pubmed: 26517915
J Neurosci. 2015 Nov 25;35(47):15582-98
pubmed: 26609154
Clin Res Hepatol Gastroenterol. 2016 Apr;40(2):141-53
pubmed: 26823041
J Hepatol. 2016 Jun;64(6):1339-47
pubmed: 26879107
Nat Commun. 2016 Feb 18;7:10713
pubmed: 26888176
PLoS One. 2016 Feb 22;11(2):e0150098
pubmed: 26900700
Hepatology. 2017 Jan;65(1):164-173
pubmed: 27532546
Pediatr Transplant. 2016 Nov;20(7):981-986
pubmed: 27534385
Pediatr Transplant. 2016 Nov;20(7):882-883
pubmed: 27566138
Hepatology. 2017 May;65(5):1645-1654
pubmed: 28027587
Clin Genet. 2017 Jul;92(1):52-61
pubmed: 28039895
J Pediatr Gastroenterol Nutr. 2017 Mar;64(3):425-430
pubmed: 28045770
Pediatr Transplant. 2017 May;21(3):null
pubmed: 28127842
Sci Rep. 2017 Feb 02;7:41806
pubmed: 28150711
Cell Mol Life Sci. 2017 Jul;74(13):2513-2524
pubmed: 28220208
J Hepatol. 2017 Dec;67(6):1253-1264
pubmed: 28733223
Virchows Arch. 2017 Nov;471(5):679-683
pubmed: 28733884
World J Gastroenterol. 2017 Aug 7;23(29):5295-5303
pubmed: 28839429
Sci Rep. 2017 Sep 18;7(1):11823
pubmed: 28924228
Clin Res Hepatol Gastroenterol. 2018 Apr;42(2):103-109
pubmed: 29031874
Hepatology. 2018 Apr;67(4):1531-1545
pubmed: 29091294
J Gastroenterol. 2018 Aug;53(8):945-958
pubmed: 29238877
Pediatrics. 2018 Jan;141(1):
pubmed: 29284646
J Hum Genet. 2018 May;63(5):569-577
pubmed: 29507376
Hepatol Commun. 2018 Mar 22;2(5):504-514
pubmed: 29761167
Hepatol Commun. 2018 Mar 30;2(5):515-528
pubmed: 29761168
J Hepatol. 2018 Oct;69(4):961-965
pubmed: 29935200
Can J Gastroenterol Hepatol. 2018 Jul 26;2018:2313675
pubmed: 30148122
Genet Med. 2019 May;21(5):1164-1172
pubmed: 30250217
Clin Liver Dis. 2018 Nov;22(4):657-669
pubmed: 30266155
Gastroenterol Clin North Am. 2018 Dec;47(4):921-937
pubmed: 30337041
J Pediatr. 2019 Feb;205:153-159.e6
pubmed: 30366773
J Pediatr Gastroenterol Nutr. 2019 Feb;68(2):169-174
pubmed: 30664572
Lancet. 2019 Mar 2;393(10174):899-909
pubmed: 30773280
Gastroenterology. 1988 Jul;95(1):130-6
pubmed: 3371608
Am J Dis Child. 1969 Jan;117(1):112-24
pubmed: 5762004
Am J Pathol. 1994 Nov;145(5):1237-45
pubmed: 7977654
J Pediatr Gastroenterol Nutr. 1994 Feb;18(2):128-33
pubmed: 8014759
J Pediatr Surg. 1995 Dec;30(12):1635-41
pubmed: 8749912
Hepatology. 1997 Jul;26(1):155-64
pubmed: 9214465
J Pediatr Surg. 1998 Feb;33(2):220-4
pubmed: 9498390
Nat Genet. 1998 Mar;18(3):219-24
pubmed: 9500542
J Biol Chem. 1998 Apr 17;273(16):10046-50
pubmed: 9545351
Nat Genet. 1998 Nov;20(3):233-8
pubmed: 9806540