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http://purl.uniprot.org/citations/35220664http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/35220664http://www.w3.org/2000/01/rdf-schema#comment"

Background and aims

Mulibrey nanism (MUL) is a multiorgan disease caused by recessive mutations in the TRIM37 gene. Chronic heart failure and hepatopathy are major determinants of prognosis in MUL patients, which prompted us to study liver biochemistry and pathology in a national cohort of MUL patients.

Methods

Clinical, laboratory and imaging data were collected in a cross-sectional survey and retrospectively from hospital records. Liver histology and immunohistochemistry for 10 biomarkers were assessed.

Results

Twenty-one MUL patients (age 1-51 years) with tumour suspicion showed moderate congestion, steatosis and fibrosis in liver biopsies and marginally elevated levels of serum GGT, AST, ALT and AST to platelet ratio index (APRI) in 20%-66%. Similarly, GGT, AST, ALT and APRI levels were moderately elevated in 12%-69% of 17 MUL patients prior to pericardiectomy. In a cross-sectional evaluation of 36 MUL outpatients, GGT, total bilirubin and galactose half-life (Gal½) correlated with age (r = 0.45, p = .017; r = 0.512, p = .007; r = 0.44, p = .03 respectively). The frequency of clearly abnormal serum values of 15 parameters analysed, however, was low even in patients with signs of restrictive cardiomyopathy. Transient elastography (TE) of the liver revealed elevated levels in 50% of patients with signs of heart failure and TE levels correlated with several biochemistry parameters. Biomarkers of fibrosis, sinusoidal capillarization and hepatocyte metaplasia showed increased expression in autopsy liver samples from 15 MUL patients.

Conclusion

Liver disease in MUL patients was characterized by sinusoidal dilatation, steatosis and fibrosis with individual progression to cirrhosis and moderate association of histology with cardiac function, liver biochemistry and elastography."xsd:string
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http://purl.uniprot.org/citations/35220664http://purl.uniprot.org/core/author"Jalanko H."xsd:string
http://purl.uniprot.org/citations/35220664http://purl.uniprot.org/core/author"Lohi J."xsd:string
http://purl.uniprot.org/citations/35220664http://purl.uniprot.org/core/author"Jahnukainen T."xsd:string
http://purl.uniprot.org/citations/35220664http://purl.uniprot.org/core/author"Jokinen E."xsd:string
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http://purl.uniprot.org/citations/35220664http://purl.uniprot.org/core/author"Karlberg N."xsd:string
http://purl.uniprot.org/citations/35220664http://purl.uniprot.org/core/author"Karlberg S."xsd:string
http://purl.uniprot.org/citations/35220664http://purl.uniprot.org/core/author"Kivisaari R."xsd:string
http://purl.uniprot.org/citations/35220664http://purl.uniprot.org/core/author"Sarkola T."xsd:string
http://purl.uniprot.org/citations/35220664http://purl.uniprot.org/core/author"Sivunen J."xsd:string
http://purl.uniprot.org/citations/35220664http://purl.uniprot.org/core/date"2022"xsd:gYear
http://purl.uniprot.org/citations/35220664http://purl.uniprot.org/core/name"Liver Int"xsd:string
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http://purl.uniprot.org/citations/35220664http://purl.uniprot.org/core/title"Liver pathology and biochemistry in patients with mutations in TRIM37 gene (Mulibrey nanism)."xsd:string
http://purl.uniprot.org/citations/35220664http://purl.uniprot.org/core/volume"42"xsd:string
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