Aminotransferases and muscular diseases: A disregarded lesson. Case reports and review of the literature
Article first published online: 24 MAY 2010
© 2010 The Authors. Journal of Paediatrics and Child Health © 2010 Paediatrics and Child Health Division (Royal Australasian College of Physicians)
Journal of Paediatrics and Child Health
Volume 48, Issue 10, pages 886–890, October 2012
How to Cite
Veropalumbo, C., Del Giudice, E., Esposito, G., Maddaluno, S., Ruggiero, L. and Vajro, P. (2012), Aminotransferases and muscular diseases: A disregarded lesson. Case reports and review of the literature. Journal of Paediatrics and Child Health, 48: 886–890. doi: 10.1111/j.1440-1754.2010.01730.x
- Issue published online: 24 OCT 2012
- Article first published online: 24 MAY 2010
- Accepted for publication 6 December 2009.
- creatine kinase;
- muscular dystrophy
The aim of this study was to call the attention to the often disregarded message that hypertransaminasemia may be a marker of both liver and muscle diseases by presenting personal case reports and a systematic literature review. Three male children (mean age 5.7 years) were inappropriately addressed, during the last 12 months, to our paediatric liver unit for diagnostic work-up of a chronic hypertransaminasemia of unknown origin. In one of them, a liver biopsy had already been performed. On admission, physical examination, evaluation of serum levels of creatine kinase, and dystrophin genetic testing finally led to a diagnosis of muscular dystrophy. One hundred fourteen similar cases, 21 with unnecessary liver biopsy, were found by Medline search. Expensive and invasive tests planned to investigate liver diseases should be postponed until alternative sources of increased serum aminotransferases, primarily myopathic injury, have been excluded.