Liver Fibrosis and Steatosis in Alström Syndrome: A Genetic Model for Metabolic Syndrome.
Alström syndrome
FIB-4
NAFLD
diabetes
fibrosis
liver/kidney ratio
metabolic syndrome
obesity
shear wave elastography
Journal
Diagnostics (Basel, Switzerland)
ISSN: 2075-4418
Titre abrégé: Diagnostics (Basel)
Pays: Switzerland
ID NLM: 101658402
Informations de publication
Date de publication:
28 Apr 2021
28 Apr 2021
Historique:
received:
07
04
2021
revised:
18
04
2021
accepted:
24
04
2021
entrez:
30
4
2021
pubmed:
1
5
2021
medline:
1
5
2021
Statut:
epublish
Résumé
Alström syndrome (ALMS) is an ultra-rare monogenic disease characterized by insulin resistance, multi-organ fibrosis, obesity, type 2 diabetes mellitus (T2DM), and hypertriglyceridemia with high and early incidence of non-alcoholic fatty liver disease (NAFLD). We evaluated liver fibrosis quantifying liver stiffness (LS) by shear wave elastography (SWE) and steatosis using ultrasound sonographic (US) liver/kidney ratios (L/K) in 18 patients with ALMS and 25 controls, and analyzed the contribution of metabolic and genetic alterations in NAFLD progression. We also genetically characterized patients. LS and L/K values were significantly higher in patients compared with in controls (
Identifiants
pubmed: 33924909
pii: diagnostics11050797
doi: 10.3390/diagnostics11050797
pmc: PMC8170882
pii:
doi:
Types de publication
Journal Article
Langues
eng
Références
Clin Liver Dis (Hoboken). 2018 Apr;11(4):98-104
pubmed: 30147867
Eur Heart J. 2020 Jan 7;41(2):255-323
pubmed: 31497854
J Clin Ultrasound. 2013 Jan;41(1):18-25
pubmed: 22997020
Radiology. 2017 Jun;283(3):820-827
pubmed: 27982761
Curr Genomics. 2011 May;12(3):225-35
pubmed: 22043170
Diabetes. 2021 Feb;70(2):323-325
pubmed: 33472947
N Engl J Med. 2017 Aug 24;377(8):756-768
pubmed: 28834467
Clin Imaging. 2008 Sep-Oct;32(5):393-5
pubmed: 18760729
Proc Natl Acad Sci U S A. 2017 May 2;114(18):4757-4762
pubmed: 28424250
Diabetologia. 1985 Jul;28(7):412-9
pubmed: 3899825
Exp Clin Transplant. 2021 Feb 01;:
pubmed: 33535939
Endocrine. 2021 Mar;71(3):618-625
pubmed: 33566311
Hum Mutat. 2015 Jul;36(7):660-8
pubmed: 25846608
J Hepatol. 2018 Feb;68(2):305-315
pubmed: 29154965
PLoS One. 2014 Oct 09;9(10):e109540
pubmed: 25299671
Hum Mutat. 2018 Jan;39(1):61-68
pubmed: 28967166
Nat Genet. 2002 May;31(1):74-8
pubmed: 11941369
Hepatology. 2018 Jan;67(1):13-15
pubmed: 28777887
Am J Med Genet. 1997 Mar 3;69(1):13-6
pubmed: 9066877
Turk J Gastroenterol. 2013;24(6):546-8
pubmed: 24623295
Hepatology. 2017 Nov;66(5):1486-1501
pubmed: 28586172
Clin Gastroenterol Hepatol. 2009 Oct;7(10):1104-12
pubmed: 19523535
Hum Mutat. 2016 Jun;37(6):564-9
pubmed: 26931183
Ann Hepatol. 2008 Oct-Dec;7(4):350-7
pubmed: 19034235
Arterioscler Thromb Vasc Biol. 2004 Feb;24(2):e19-24
pubmed: 14766740
J Hypertens. 2007 Jun;25(6):1105-87
pubmed: 17563527
Arch Intern Med. 2005 Mar 28;165(6):675-83
pubmed: 15795345
Dig Liver Dis. 2017 May;49(5):471-483
pubmed: 28215516
Hepatology. 2018 Jan;67(1):328-357
pubmed: 28714183
J Hepatol. 2013 May;58(5):928-35
pubmed: 23321316
J Hepatol. 2017 Feb;66(2):466-467
pubmed: 27856217
Obes Facts. 2019;12(3):291-306
pubmed: 31104052
PLoS One. 2017 May 16;12(5):e0177264
pubmed: 28510583
Metabolism. 2016 Aug;65(8):1038-48
pubmed: 26823198
Hum Mutat. 2017 Jul;38(7):764-777
pubmed: 28432734
Hepatology. 2018 Jan;67(1):260-272
pubmed: 28370257
Am J Med Genet. 2001 Jun 1;101(1):9-11
pubmed: 11343329
PLoS Genet. 2007 Jan 5;3(1):e8
pubmed: 17206865
Acta Ophthalmol. 2018 Jun;96(4):e445-e454
pubmed: 29193673
PLoS One. 2011 Apr 26;6(4):e19081
pubmed: 21541333
PLoS One. 2016 Jan 14;11(1):e0145951
pubmed: 26766544
Eur J Hum Genet. 2007 Dec;15(12):1193-202
pubmed: 17940554
Am J Med Genet. 1991 Sep 15;40(4):421-4
pubmed: 1746604
J Pathol. 2019 Aug;248(4):488-500
pubmed: 30945293
PLoS One. 2012;7(5):e37925
pubmed: 22693585
BMC Endocr Disord. 2018 Nov 26;18(1):88
pubmed: 30477455
Liver Int. 2016 Nov;36(11):1704-1712
pubmed: 27178444
Nucleic Acids Res. 2019 Jul 2;47(W1):W636-W641
pubmed: 30976793
Dev Neurobiol. 2013 Jan;73(1):1-13
pubmed: 22581473
Dig Endosc. 2010 Jan;22(1):1-9
pubmed: 20078657
Hepatology. 2012 Dec;56(6):2125-33
pubmed: 22767302
Metabolism. 2009 Dec;58(12):1724-30
pubmed: 19716568
Clin Chem Lab Med. 2002 Jul;40(7):739-45
pubmed: 12241024
Orphanet J Rare Dis. 2020 Sep 21;15(1):253
pubmed: 32958032
Gastroenterology. 2005 Jun;128(7):1898-906
pubmed: 15940625
Nat Genet. 2002 May;31(1):79-83
pubmed: 11941370
Diabetes. 2021 Feb;70(2):364-376
pubmed: 32994277
Am J Med Genet A. 2021 Mar;185(3):732-742
pubmed: 33410256