Dysferlinopathy as an extrahepatic cause for the elevation of serum transaminases

Medizinische Klinik
Michael BrüssGerhard J Molderings

Abstract

The aim of the present report is to emphasize that the source of elevated transaminase levels, although usually indicative of hepatocellular damage, can also be of extrahepatic origin. A 42-year-old female presented with a moderate persistent elevation of the transaminases glutamic-oxaloacetic transaminase (GOT; synonym: aspartate aminotransferase [AST]) and glutamic-pyruvic transaminase (GPT; synonym: alanine aminotransferase [ALT]) in blood without any apparent clinical symptoms of liver affection. In the course of further diagnostics for clarification of a suspected liver disease, a markedly elevated activity of creatine kinase was found which, in concert with results from myography, magnetic resonance imaging (MRI) and analysis of muscle biopsies, suggested the tentative diagnosis of a distal myopathy type Miyoshi. The diagnosis was confirmed by identification of the underlying mutation in the dysferlin gene. The course of the disease has been slowly but steadily progressive; there is no therapeutic option at present. The relevance of molecular genetic analyses in the diagnostic procedure for distal myopathies, in particular dysferlinopathy, is discussed and the characteristics of this disease are summarized. In the case of...Continue Reading

Citations

Nov 30, 2006·Annals of Tropical Paediatrics·Nafiye UrganciAsiye Nuhoğlu

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