Recent developments in diagnostics and treatment of neonatal cholestasis.
Alagille syndrome
Biliary atresia
Genomics
Neonatal cholestasis
Progressive familial intrahepatic cholestasis
Journal
Seminars in pediatric surgery
ISSN: 1532-9453
Titre abrégé: Semin Pediatr Surg
Pays: United States
ID NLM: 9216162
Informations de publication
Date de publication:
Aug 2020
Aug 2020
Historique:
entrez:
31
8
2020
pubmed:
31
8
2020
medline:
16
6
2021
Statut:
ppublish
Résumé
Neonatal cholestasis is characterized by conjugated hyperbilirubinemia in the newborn and young infant and is a sign common to over 100 hepatobiliary and/or metabolic disorders. A timely evaluation for its etiology is critical in order to quickly identify treatable causes such as biliary atresia, many of which benefit from early therapy. An expanding group of molecularly defined disorders involving bile formation, canalicular transporters, tight junction proteins and inborn errors of metabolism are being continuously discovered because of advances in genetic testing and bioinformatics. The advent of next generation sequencing has transformed our ability to test for multiple genes and whole exome or whole genome sequencing within days to weeks, enabling rapid and affordable molecular diagnosis for disorders that cannot be directly diagnosed from standard blood tests or liver biopsy. Thus, our diagnostic algorithms for neonatal cholestasis are undergoing transformation, moving genetic sequencing to earlier in the evaluation pathway once biliary atresia, "red flag" disorders and treatable disorders are excluded. Current therapies focus on promoting bile flow, reducing pruritus, ensuring optimal nutrition, and monitoring for complications, without addressing the underlying cause of cholestasis in most instances. Our improved understanding of bile formation and the enterohepatic circulation of bile acids has led to emerging therapies for cholestasis which require appropriate pediatric clinical trials. Despite these advances, the cause and optimal therapy for biliary atresia remain elusive. The goals of this review are to outline the etiologies, diagnostic pathways and current and emerging management strategies for neonatal cholestasis.
Identifiants
pubmed: 32861449
pii: S1055-8586(20)30065-2
doi: 10.1016/j.sempedsurg.2020.150945
pmc: PMC7459146
mid: NIHMS1615941
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
150945Subventions
Organisme : AHRQ HHS
ID : K08 HS026510
Pays : United States
Organisme : NIDDK NIH HHS
ID : U01 DK062453
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR002535
Pays : United States
Informations de copyright
Copyright © 2020. Published by Elsevier Inc.
Déclaration de conflit d'intérêts
Declaration of Competing Interest None.
Références
Hepatology. 2008 Sep;48(3):871-7
pubmed: 18752324
J Hepatol. 2000 Apr;32(4):561-6
pubmed: 10782903
Pediatr Radiol. 2013 Aug;43(8):905-19
pubmed: 23519699
Hepatology. 2015 Aug;62(2):558-66
pubmed: 25716872
Hepatology. 2007 Aug;46(2):566-81
pubmed: 17661405
PLoS One. 2014 Feb 05;9(2):e88268
pubmed: 24505457
F1000Res. 2016 Apr 19;5:
pubmed: 27134744
J Hepatol. 2013 Jun;58(6):1209-17
pubmed: 23402746
Nat Med. 2004 Dec;10(12):1352-8
pubmed: 15558057
Hepatol Commun. 2018 Sep 24;2(10):1184-1198
pubmed: 30288474
Pediatrics. 2008 May;121(5):e1152-9
pubmed: 18390957
J Pediatr Gastroenterol Nutr. 2002 Jul;35(1):44-50
pubmed: 12142809
Pediatrics. 2019 Nov;144(5):
pubmed: 31604829
Cytokine. 2013 Feb;61(2):433-7
pubmed: 23178147
JAMA. 2019 Nov 12;322(18):1822-1824
pubmed: 31714979
Liver Transpl. 2012 Jan;18(1):120-8
pubmed: 21987426
Nat Rev Gastroenterol Hepatol. 2019 Jun;16(6):346-360
pubmed: 30903105
MMWR Morb Mortal Wkly Rep. 2017 Feb 10;66(5):134-135
pubmed: 28182607
Pediatr Neonatol. 2009 Oct;50(5):202-7
pubmed: 19856863
BMJ. 1995 May 6;310(6988):1172-3
pubmed: 7767152
J Pediatr. 2007 Dec;151(6):659-65, 665.e1
pubmed: 18035148
Hepatology. 2010 Jan;51(1):286-96
pubmed: 19918981
J Hepatol. 2016 Mar;64(3):674-81
pubmed: 26529078
Genet Med. 2017 Dec;19(12):
pubmed: 28771246
Hepatol Commun. 2018 Jun 14;2(7):765-777
pubmed: 30129636
Clin Liver Dis. 2006 Feb;10(1):27-53, v
pubmed: 16376793
Gastroenterology. 2006 Feb;130(2):465-81
pubmed: 16472600
J Pediatr Surg. 2004 Jan;39(1):16-8
pubmed: 14694364
Pediatr Transplant. 2013 Nov;17(7):605-11
pubmed: 23902630
Orphanet J Rare Dis. 2014 Jul 15;9:89
pubmed: 25022842
Clin Liver Dis. 2008 Feb;12(1):53-80, viii
pubmed: 18242497
Nat Rev Genet. 2010 Jan;11(1):31-46
pubmed: 19997069
Hepatology. 2007 Nov;46(5):1632-8
pubmed: 17929308
Hepatology. 2009 Sep;50(3):861-70
pubmed: 19582812
Pediatr Transplant. 2005 Oct;9(5):652-61
pubmed: 16176426
J Pediatr. 2015 Sep;167(3):519-26
pubmed: 26130113
J Hepatol. 2017 Jul;67(1):145-172
pubmed: 28427765
Neoreviews. 2013 Feb 1;14(2):
pubmed: 24244109
JAMA. 2014 May 7;311(17):1750-9
pubmed: 24794368
Liver Transpl. 2017 Jan;23(1):96-109
pubmed: 27650268
J Hepatol. 2016 Sep;65(3):631-42
pubmed: 27164551
Front Biosci (Landmark Ed). 2009 Jan 01;14:4242-56
pubmed: 19273348
J Pediatr Gastroenterol Nutr. 2009 Oct;49(4):435-41
pubmed: 19680152
Hepatology. 2009 Sep;50(3):808-14
pubmed: 19585548
Acta Pharm Sin B. 2015 Mar;5(2):135-44
pubmed: 26579439
Hepatology. 2017 Apr;65(4):1393-1404
pubmed: 27997980
Clin Perinatol. 2016 Jun;43(2):355-73
pubmed: 27235213
Prion. 2014 Mar-Apr;8(2):
pubmed: 24818993
Pediatr Clin North Am. 2018 Apr;65(2):337-352
pubmed: 29502917
J Pediatr Gastroenterol Nutr. 2018 Feb;66(2):e57-e59
pubmed: 28968290
Clin Liver Dis. 2013 May;17(2):161-89
pubmed: 23540496
Hepatology. 2007 Jun;45(6):1506-16
pubmed: 17538928
N Engl J Med. 2016 Aug 11;375(6):605-6
pubmed: 27509119
Ann Transl Med. 2015 Jan;3(1):5
pubmed: 25705637
J Hepatol. 2015 Apr;62(1 Suppl):S25-37
pubmed: 25920087
Biochem Biophys Res Commun. 2008 Jul 18;372(1):78-84
pubmed: 18468513
Mod Pathol. 1997 Aug;10(8):793-9
pubmed: 9267821
Hepatology. 2018 Aug;68(2):616-624
pubmed: 29486516
Mol Cell Probes. 2015 Oct;29(5):291-8
pubmed: 25771912
JCI Insight. 2017 Mar 9;2(5):e90780
pubmed: 28289714
Hepatology. 1994 May;19(5):1149-56
pubmed: 8175136
AJR Am J Roentgenol. 2011 Apr;196(4):W438-45
pubmed: 21427309
Hepatology. 2016 Feb;63(2):512-23
pubmed: 26172874
Gastroenterology. 2012 Jan;142(1):140-151.e12
pubmed: 22001865
J Biol Chem. 2003 Dec 19;278(51):51085-90
pubmed: 14527955
Nat Clin Pract Gastroenterol Hepatol. 2008 Aug;5(8):456-68
pubmed: 18577977
J Surg Res. 2010 Apr;159(2):611-7
pubmed: 20097372
Gastroenterology. 1994 May;106(5):1284-90
pubmed: 8174890
Clin Gastroenterol Hepatol. 2011 Apr;9(4):357-362.e2
pubmed: 21238606
Pediatr Clin North Am. 2017 Jun;64(3):621-639
pubmed: 28502442
Hepatology. 2018 Dec;68(6):2069-2077
pubmed: 30153340
Expert Opin Pharmacother. 2008 May;9(7):1229-36
pubmed: 18422479
Hepatology. 2017 May;65(5):1645-1654
pubmed: 28027587
Turk J Pediatr. 2013 Mar-Apr;55(2):152-7
pubmed: 24192674
Pediatr Radiol. 2012 Jan;42(1):32-9
pubmed: 21786124
Core Evid. 2012;7:61-75
pubmed: 22936894
J Pediatr. 2005 Aug;147(2):180-5
pubmed: 16126046
Clin Imaging. 2009 Nov-Dec;33(6):439-46
pubmed: 19857804
J Biol Chem. 2002 Jan 25;277(4):2908-15
pubmed: 11706036
J Pediatr Gastroenterol Nutr. 2010 Oct;51(4):488-493
pubmed: 20683201
Eur J Pediatr Surg. 2016 Aug;26(4):349-56
pubmed: 26018212
Pediatrics. 2009 May;123(5):1280-6
pubmed: 19403492
JAMA Pediatr. 2018 Feb 1;172(2):111-112
pubmed: 29204650
Hepatology. 2005 Jul;42(1):222-35
pubmed: 15898074
J Pediatr. 2019 May;208:30-37.e1
pubmed: 30853207
N Engl J Med. 1991 May 30;324(22):1548-54
pubmed: 1674105
J Pediatr Gastroenterol Nutr. 2017 Jan;64(1):154-168
pubmed: 27429428
J Pediatr. 2017 Mar;182:232-238.e1
pubmed: 28088400
J Surg Res. 2009 Jun 1;154(1):21-9
pubmed: 19084240
Hepatology. 2012 Jan;55(1):173-83
pubmed: 21932391
Am J Gastroenterol. 2004 Feb;99(2):264-8
pubmed: 15046215
J Pediatr. 2016 Apr;171:171-7.e1-4
pubmed: 26858187
Hepatol Res. 2016 Apr;46(4):306-11
pubmed: 26126923
Pediatr Rev. 2004 Nov;25(11):388-96
pubmed: 15520084
Expert Rev Gastroenterol Hepatol. 2010 Jun;4(3):335-43
pubmed: 20528120
Sci Transl Med. 2017 Nov 22;9(417):
pubmed: 29167395
Hepatology. 2009 Jun;49(6):1972-81
pubmed: 19475687
J Pediatr Gastroenterol Nutr. 2020 Mar;70(3):344-349
pubmed: 31764415
Gastroenterology. 2005 Aug;129(2):476-85
pubmed: 16083704
PLoS One. 2016 Oct 5;11(10):e0164058
pubmed: 27706244
Gastroenterology. 2010 Mar;138(3):1102-11
pubmed: 19944697
J Pediatr Gastroenterol Nutr. 2016 Jun;62(6):799-803
pubmed: 26720765
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Dec;23(6):655-8
pubmed: 17160946
Pediatr Int. 2013 Apr;55(2):138-44
pubmed: 23279303
Hepatology. 2017 Nov;66(5):1631-1643
pubmed: 28498614
Liver Int. 2007 Sep;27(7):920-9
pubmed: 17696930
Pediatrics. 2011 Dec;128(6):e1428-33
pubmed: 22106076