Alport disease: A review of the diagnostic difficulties

In patients with familial hematuria, ultrastructural study of the renal bio psy has been the gold standard for the diagnosis of Alport disease. based o n characteristic findings of glomerular basement membrane thickening due to reduplication of the lamina densa. But the diagnosis has difficulties as n ot all biopsies from Alport disease patients have these structural changes. In adult female patients or in children. extensive thinning of the basemen t membrane can be the major abnormality by electron microscopy. Until the g enetic mutation of collagen IV responsible for Alport disease can be demons trated in all patients, the diagnosis will continue to be a challenge at th e clinical and at the ultrastructural levels.