RT Journal Article SR Electronic T1 Normal distribution of collagen IV in renal basement membranes in Epstein's syndrome. JF Journal of Clinical Pathology JO J Clin Pathol FD BMJ Publishing Group Ltd and Association of Clinical Pathologists SP 919 OP 922 DO 10.1136/jcp.50.11.919 VO 50 IS 11 A1 I Naito A1 S Nomura A1 S Inoue A1 M Kagawa A1 S Kawai A1 Y Gunshin A1 K Joh A1 C Tsukidate A1 Y Sado A1 G Osawa YR 1997 UL http://jcp.bmj.com/content/50/11/919.abstract AB 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.