Epstein Syndrome Presenting as Renal Failure in Young Patients
2009
Two young Chinese patients presented with renal failure and thrombocytopenia. Further investigations showed the presence of large platelets and high-frequency sensorineural hearing deficit. Genetic studies confirmed mutations in the gene encoding the myosin heavy chain (MYH-9), and Epstein Syndrome was diagnosed. One patient underwent deceased-donor kidney transplantation with satisfactory graft function. Epstein Syndrome is a rare genetic disorder with autosomal dominant inheritance. Clinicians should be aware of this entity when a young patient presents with renal failure and thrombocytopenia.
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