Epstein syndrome with rapid progression to end stage renal disease.
The association of haematological abnormalities and hereditary nephritis is rare; it is mainly included in a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly, Fechtner, Sebastian, Epstein and Alport syndrome with macro thrombocytopenia. We are presenting a missed case of a boy who presented with epistaxis and his diagnostic work up revealed macrothrombocytopenia, sensorineural hearing loss and chronic nephropathy which constitute the Epstein syndrome, with rapid deterioration of kidney function.
Pediatric Department, King Hussein Medical Center, Amman, Jordan.
Esam
E
Alhindawi
Samah
S
Al-Jbour
D001706:Biopsy; D002648:Child; D018450:Disease Progression; D004844:Epistaxis / Q000209:etiology; D006319:Hearing Loss, Sensorineural / Q000150:complications* / Q000473:pathology; D006801:Humans; D007674:Kidney Diseases / Q000150:complications*; D007676:Kidney Failure, Chronic / Q000209:etiology* / Q000473:pathology / Q000628:therapy; D008297:Male; D006435:Renal Dialysis; D013577:Syndrome; D013921:Thrombocytopenia / Q000150:complications* / Q000473:pathology