Alport disease: a review of the diagnostic difficulties.

In patients with familial hematuria, ultrastructural study of the renal biopsy has been the gold standard for the diagnosis of Alport disease, based on characteristic findings of glomerular basement membrane thickening due to reduplication of the lamina densa. But the diagnosis has difficulties as not all biopsies from Alport disease patients have these structural changes. In adult female patients or in children, extensive thinning of the basement membrane can be the major abnormality by electron microscopy. Until the genetic mutation of collagen IV responsible for Alport disease can be demonstrated in all patients, the diagnosis will continue to be a challenge at the clinical and at the ultrastructural levels.