Chronic liver involvement in urea cycle disorders.
Adolescent
Adult
Aged
Child
Child, Preschool
Chronic Disease
Cohort Studies
Cross-Sectional Studies
Disease Progression
Female
Follow-Up Studies
Humans
Infant
Italy
Liver
/ diagnostic imaging
Liver Diseases
/ diagnosis
Liver Function Tests
Liver Transplantation
Male
Middle Aged
Urea Cycle Disorders, Inborn
/ complications
Young Adult
argininosuccinate lyase deficiency
chronic liver disease
hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
incomplete septal cirrhosis
lean nonalcoholic fatty liver disease
metabolic syndrome
urea cycle disorders
Journal
Journal of inherited metabolic disease
ISSN: 1573-2665
Titre abrégé: J Inherit Metab Dis
Pays: United States
ID NLM: 7910918
Informations de publication
Date de publication:
11 2019
11 2019
Historique:
received:
14
01
2019
revised:
21
06
2019
accepted:
28
06
2019
pubmed:
2
7
2019
medline:
25
8
2020
entrez:
2
7
2019
Statut:
ppublish
Résumé
The increased survival of urea cycle disorders (UCDs) patients has led the attention to clinical manifestations that characterize the long-term disease course. Acute and chronic liver disease have been anecdotally reported since the very first description of UCDs. However, a detailed analysis of long-term liver involvement in large patient cohorts is still needed. Chronic liver damage in UCDs has probably a multifactorial origin, but the specific underlying mechanisms of liver disease have not yet been well elucidated. In this study, we report on chronic liver involvement and on associated metabolic abnormalities in a large cohort of 102 UCD patients, followed by two reference centers in Italy. Chronic liver involvement was observed in over 60% of UCDs patients, and comparison between individual diseases showed a significant higher frequency in argininosuccinate lyase deficiency (ASLD) and in hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome with elevation of transaminases and of gamma-GT in ASLD, and of alpha-fetoprotein in HHH syndrome. Also, consistent with a chronic hepatic dysfunction, ultrasound examination revealed more pronounced abnormalities in ASLD and in HHH syndrome, when compared to other UCDs. Our study highlights in a large UCDs patients' cohort that chronic liver disease is a common finding in UCDs, often with a distinct phenotype between different diseases. Furthers studies are needed to elucidate the specific involvement of different metabolic pathways in the pathogenesis of liver dysfunction in UCDs.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1118-1127Informations de copyright
© 2019 SSIEM.
Références
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