Diagnosing Alport Syndrome in Children

Abstract

The diagnosis of Alport syndrome, a type IV collagen hereditary disorder, should be considered in any child with unexplained, persistent microscopic hematuria of glomemlar origin. Characteristic ultrastructurcahl ange in the glomerular basement membrane has been the primary pathologic criterion for diagnosis. New insights about the genes responsible for collagen type IV and its complex protein structure have led to alternative diagnostic avenues. Familiarity with the pediatric kidney is necessary to accurately interpret these exciting new data. (The J Histotechnol 27:267, 2004)

Keywords:

• Alport syndrome
• glomerular basement membrane
• collagen type IV
• hematuria
• thin basement membrane
• electron microscopy
• immunofluorescent microscopy