Epstein syndrome constitutes macrothrombocytopenia without neutrophil inclusion bodies along with deafness and renal failure. A diagnosis of Epstein syndrome was made in a 17 year-old-male patient with macrothrombopathic thrombocytopenia, renal failure and sensorineural hearing loss. Our patient is unique as he presented with rapidly progressive renal failure and developed chronic kidney disease in second decade of life with no symptomatic hearing loss or bleeding tendency. Epstein syndrome needs to be differentiated from Alport syndrome which is more common disease with similar clinical presentation.
Implication for health policy/practice/research/medical education:
Thrombocytopenia in Epstein syndrome is not an absolute contraindication for major surgical procedures like arteriovenous fistula formation. Patients presenting with renal failure with thrombocytopenia should be screened for Epstein syndrome.
Please cite this paper as: Balwani MR, Engineer DP, Gumber MR, Kute VB, Singh R, Patel HV, et al. An unusual cause of renal failure; Epstein syndrome. J Nephropharmacol. 2016;5(1):63-65.