Background: Epstein's syndrome is defined as a subtype of Alport's syndrome, and is distinguished from the other subtypes by accompanying macrothrombocytopenia. Mutations in collagen IV genes are known to be involved in the pathogenesis of typical Alport's syndrome. However, the presence of an underlying genetic defect has not been demonstrated in Epstein's syndrome.
Aim: To clarify the involvement of collagen IV in Epstein's syndrome.
Methods: The distribution of the alpha(IV) chain was studied in renal specimens obtained from three patients with Epstein's syndrome using chain specific monoclonal antibodies and an antigen retrieval procedure.
Results: The patients showed a normal distribution of alpha(IV) chains: alpha 1(IV) and alpha 2(IV) were expressed ubiquitously, whereas expression of alpha 3(IV) through to alpha 6(IV) chains was limited to the glomerular basement membrane, Bowman's capsular basement membrane, and/or a portion of the tubular basement membrane.
Conclusions: These results suggest that genes other than those encoding alpha(IV) chains are responsible for the pathogenesis of Epstein's syndrome.