[Macrothrombopenia, nephritis and hearing loss--a new case of Epstein syndrome]

A 14 years old boy with persistent proteinuria (1.6-4.0 g/day), microscopic haematuria, macrothrombocytopenia (giant platelets, platelet number 30 G/l), and a familial sensorineural hearing loss (the father and the brother were also affected) was studied. Kidney biopsy presented a diffuse mesangial proliferation, and a focal thickening of the glomerular basement membrane was seen on electron microscopy. With bone marrow aspiration normal number of megacaryocytes was observed. The aggregation response of the platelets was decreased on collagen, epinephrine and ADP but it was normal on aggristin. The presented case with nephritis, platelet disorders and hearing loss corresponds to Epstein syndrome, a variant of Alport's syndrome.