PMID- 33924909
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20210604
IS  - 2075-4418 (Print)
IS  - 2075-4418 (Electronic)
IS  - 2075-4418 (Linking)
VI  - 11
IP  - 5
DP  - 2021 Apr 28
TI  - Liver Fibrosis and Steatosis in Alstrom Syndrome: A Genetic Model for Metabolic 
      Syndrome.
LID - 10.3390/diagnostics11050797 [doi]
LID - 797
AB  - Alstrom 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 (p < 0.001 versus 
      p = 0.013). In patients, LS correlated with the Fibrosis-4 Index and age, while 
      L/K was associated with triglyceride levels. LS showed an increasing trend in 
      patients with metabolic comorbidities and displayed a significant correlation 
      with waist circumference, the homeostasis model assessment, and glycated 
      hemoglobin A1c. SWE and US represent promising tools to accurately evaluate early 
      liver fibrosis and steatosis in adults and children with ALMS during follow-up. 
      We described a new pathogenic variant of exon 8 in ALMS1. Patients with ALMS 
      displayed enhanced steatosis, an early increased age-dependent LS that is 
      associated with obesity and T2DM but also linked to genetic alterations, 
      suggesting that ALMS1 could be involved in liver fibrogenesis.
FAU - Bettini, Silvia
AU  - Bettini S
AUID- ORCID: 0000-0001-8596-8237
AD  - Internal Medicine 3, Department of Medicine, DIMED, University of Padua, 35128 
      Padua, Italy.
FAU - Bombonato, Giancarlo
AU  - Bombonato G
AD  - Internal Medicine 5, Department of Medicine, DIMED, University of Padua, 35128 
      Padua, Italy.
FAU - Dassie, Francesca
AU  - Dassie F
AD  - Internal Medicine 3, Department of Medicine, DIMED, University of Padua, 35128 
      Padua, Italy.
FAU - Favaretto, Francesca
AU  - Favaretto F
AD  - Internal Medicine 3, Department of Medicine, DIMED, University of Padua, 35128 
      Padua, Italy.
FAU - Piffer, Luca
AU  - Piffer L
AD  - Internal Medicine 5, Department of Medicine, DIMED, University of Padua, 35128 
      Padua, Italy.
FAU - Bizzotto, Paola
AU  - Bizzotto P
AD  - Internal Medicine 5, Department of Medicine, DIMED, University of Padua, 35128 
      Padua, Italy.
FAU - Busetto, Luca
AU  - Busetto L
AUID- ORCID: 0000-0003-4883-8980
AD  - Internal Medicine 3, Department of Medicine, DIMED, University of Padua, 35128 
      Padua, Italy.
FAU - Chemello, Liliana
AU  - Chemello L
AUID- ORCID: 0000-0001-6584-4157
AD  - Internal Medicine 5, Department of Medicine, DIMED, University of Padua, 35128 
      Padua, Italy.
FAU - Senzolo, Marco
AU  - Senzolo M
AD  - Gastroenterology Department of Oncological and Gastroenterological Surgical 
      Sciences, DiSCOG, University of Padua, 35128 Padua, Italy.
FAU - Merkel, Carlo
AU  - Merkel C
AD  - Internal Medicine 5, Department of Medicine, DIMED, University of Padua, 35128 
      Padua, Italy.
FAU - Angeli, Paolo
AU  - Angeli P
AD  - Internal Medicine 5, Department of Medicine, DIMED, University of Padua, 35128 
      Padua, Italy.
FAU - Vettor, Roberto
AU  - Vettor R
AD  - Internal Medicine 3, Department of Medicine, DIMED, University of Padua, 35128 
      Padua, Italy.
FAU - Milan, Gabriella
AU  - Milan G
AUID- ORCID: 0000-0001-8987-5310
AD  - Internal Medicine 3, Department of Medicine, DIMED, University of Padua, 35128 
      Padua, Italy.
FAU - Maffei, Pietro
AU  - Maffei P
AD  - Internal Medicine 3, Department of Medicine, DIMED, University of Padua, 35128 
      Padua, Italy.
LA  - eng
PT  - Journal Article
DEP - 20210428
PL  - Switzerland
TA  - Diagnostics (Basel)
JT  - Diagnostics (Basel, Switzerland)
JID - 101658402
PMC - PMC8170882
OTO - NOTNLM
OT  - Alstrom syndrome
OT  - FIB-4
OT  - NAFLD
OT  - diabetes
OT  - fibrosis
OT  - liver/kidney ratio
OT  - metabolic syndrome
OT  - obesity
OT  - shear wave elastography
COIS- The authors declare no conflict of interest.
EDAT- 2021/05/01 06:00
MHDA- 2021/05/01 06:01
PMCR- 2021/04/28
CRDT- 2021/04/30 01:30
PHST- 2021/04/07 00:00 [received]
PHST- 2021/04/18 00:00 [revised]
PHST- 2021/04/24 00:00 [accepted]
PHST- 2021/04/30 01:30 [entrez]
PHST- 2021/05/01 06:00 [pubmed]
PHST- 2021/05/01 06:01 [medline]
PHST- 2021/04/28 00:00 [pmc-release]
AID - diagnostics11050797 [pii]
AID - diagnostics-11-00797 [pii]
AID - 10.3390/diagnostics11050797 [doi]
PST - epublish
SO  - Diagnostics (Basel). 2021 Apr 28;11(5):797. doi: 10.3390/diagnostics11050797.