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.[1] Epstein syndrome and other Alport-like disorders were seen to be caused by mutations in the MYH9 (myosin heavy chain 9) [2] 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.[3]
^Balwani, Manish (2016). "An unusual cause of renal failure; Epstein syndrome". Journal of Nephropharmacology. 5 (1): 63–65. PMC 5297510. PMID 28197502.
^Higashi, Midoriko; Kaku, Keizo; Okabe, Yasuhiro; Yamaura, Ken (2020). "Anesthetic Management of Living-Donor Renal Transplantation in a Patient with Epstein Syndrome Using Rotational Thromboelastometry: A Case Report". A&A Practice. 14 (13): e01350. doi:10.1213/XAA.0000000000001350. PMC 7688077. PMID 33236872.
^Seri, Marco (2003). "MYH9-Related Disease: May-Hegglin Anomaly, Sebastian Syndrome, Fechtner Syndrome, and Epstein Syndrome Are not Distinct Entities but Represent a Variable Expression of a Single Illness". Medicine. 82 (3): 203–215. doi:10.1097/01.md.0000076006.64510.5c. PMID 12792306. S2CID 25549125.
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