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Hepatology Shorts: Glycosylation Disorders, MMF hepatotoxicity & Wilson’s Disease

October 26, 2021 7:00 am

R Colantuono et al. JPGN 2021; 73: 444-454. Liver Involvement in Congenital Disorders of Glycosylation: A Systematic Review

Key points:

There are over 130 different types of CDG with 41 that have liver involvement; 7 with a hepatopathy and 34 with in the context of multisystem disease.
Transferrin isoform analysis (Isoelectric focusing or high-performance liquid chromotography) detects about 50% of the CDGs; hence, genetic panel or exome sequencing is needed for diagnosis in many cases.

M Warren et al. JPGN 2021; 73: 463-470. Mycophenolate Mofetil Hepatotoxicity Associated With Mitochondrial Abnormality in Liver Transplant Recipients and Mice

Key points:

4 cases of MMF hepatoxicity are presented along with EM changes which revealed unequivocal mitochondrial abnormalities similar to those seen in primary and secondary mitochondrial disorders
MMF hepatotoxicity was confirmed in mouse study showing that MMF caused various stress changes in the mitochondria
Conclusion: Although MMF is safe for the majority of patients, MMF can cause mitochondrial stress, which may trigger more severe mitochondrial abnormalities in a small subset which can be evident with EM.

E Couchonnal et al JGPN; 73: e80-e86. Pediatric Wilson’s Disease: Phenotypic, Genetic Characterization and Outcome of 182 Children in France

This study examined the clinical data from 182 pediatric patients. WD was diagnosed at a mean age of 10.7 years. Overall survival at 20 years of followup was 98% and patient and transplant-free survival was 84% at 20 years.