Epstein syndrome with rapid progression to end stage renal disease

Abstract EN

The association of hematological abnormalities and hereditary nephritis is rare; it is mainly included in a spectrum of autosomal dominant macrothrombocytopenias : May-Haggling anomaly, Fechtner, Sebastian, Epstein and AL port syndrome with macro thrombocytopenia.

We are presenting a missed case of a boy who presented with epistaxis and his diagnostic work up revealed macro thrombocytopenia, sensor neural hearing loss and chronic nephropathy which constitute the Epstein syndrome, with rapid deterioration of kidney function.