Epstein syndrome presenting as renal failure in young patients.
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.
Yap
Desmond Yat Hin
DY
Division of Nephrology, Department of Medicine, University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong.
Tse
Kai Chung
KC
Chan
Tak Mao
TM
Lie
Albert Kwok Wai
AK
D000293:Adolescent; D001299:Audiometry; D001707:Biopsy, Needle; D002681:China; D003937:Diagnosis, Differential; D005500:Follow-Up Studies; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007150:Immunohistochemistry; D016030:Kidney Transplantation / Q000379:methods; D008297:Male; D018995:Myosin Heavy Chains / Q000235:genetics*; D051437:Renal Insufficiency / Q000175:diagnosis* / Q000235:genetics* / Q000601:surgery; D018570:Risk Assessment; D012494:Sampling Studies; D013577:Syndrome; D013921:Thrombocytopenia / Q000175:diagnosis* / Q000235:genetics; D055815:Young Adult
D018995:Myosin Heavy Chains