Epstein syndrome
| Epstein syndrome | |
|---|---|
| Giant platelet in a peripheral blood smear | |
| Specialty | Nephrology, medical genetics, haemotology |
| Symptoms | Macrothrombocytopenia, nephritis, proteinuria, nephropathy, sensorineural hearing loss, low platelet count, oral lesions and cataracts |
| Causes | Mutations in the MYH9 nonmuscle myosin heavy chain IIA on the R702 codon |
| Diagnostic method | Analysis of peripheral blood smear |
| Treatment | Renal transplant |
Epstein syndrome is a rare genetic disease characterized by a mutation in the MYH9 gene in nonmuscle myosin. This disease affects the patient's renal system and can result in kidney failure. Epstein syndrome was first discovered in 1972 when two families had similar symptoms to Alport syndrome. Epstein syndrome and other Alport-like disorders were seen to be caused by mutations in the MYH9 (myosin heavy chain 9) gene, however, Epstein syndrome differs as it was more specifically linked to a mutation on the R702 codon on the MYH9 gene. Diseases with mutations on the MYH9 gene also include May–Hegglin anomaly, Sebastian syndrome and Fechtner syndrome.