Epstein syndrome presenting as renal failure in young patients

Ren Fail. 2009;31(7):582-5. doi: 10.1080/08860220903033708.


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.

MeSH terms

  • Adolescent
  • Audiometry
  • Biopsy, Needle
  • China
  • Diagnosis, Differential
  • Follow-Up Studies
  • Hearing Loss, Sensorineural / diagnosis*
  • Hearing Loss, Sensorineural / genetics
  • Humans
  • Immunohistochemistry
  • Kidney Transplantation / methods
  • Male
  • Myosin Heavy Chains / genetics*
  • Renal Insufficiency / diagnosis*
  • Renal Insufficiency / genetics*
  • Renal Insufficiency / surgery
  • Risk Assessment
  • Sampling Studies
  • Syndrome
  • Thrombocytopenia / diagnosis*
  • Thrombocytopenia / genetics
  • Young Adult


  • Myosin Heavy Chains