Hereditary macrothrombocytopathia, deafness and nephritis (Epstein's triad).
Epstein's triad is a syndrome with a combination of hereditary macrothrombocytopathia and progressive sensorineural hearing loss and nephritis. This syndrome is rare and may be inherited as dominant trait or sex-linked or new mutation. But the true mode of this syndrome is still questionable. Bilateral sensorineural hearing loss is progressive and seems not to be related to the severity of bleeding episodes and renal failure. An 8-year-old boy with these findings is presented and discussed in this article.
D001791:Blood Platelet Disorders / Q000150:complications* / Q000235:genetics / Q000473:pathology; D002648:Child; D006319:Hearing Loss, Sensorineural / Q000150:complications*; D006801:Humans; D008297:Male; D009393:Nephritis / Q000150:complications*; D013577:Syndrome; D013921:Thrombocytopenia / Q000473:pathology