PILOT EXPERIENCE WITH DNA DIAGNOSIS OF AL PORTS-SYNDROME IN FAMILIES WITH SPECIFIC MORPHOLOGY OF RENAL LESION

Clinicomorphological findings are reported for two children from famil ies with hereditary predisposition to hematuria characterized by early occurence of chronic renal insufficiency, neurosensory hypoacusis, co ngenital ocular abnormalities inherited by sex-linked dominant type. L ight microscopy of nephrobiopsies re vealed diffuse mesangial prolifer ation in both children. Final diagnosis of Alport's syndrome was feasi ble only on molecular-genetic level after polymerase chain reactions h ad identified mutation in collagen type 4 alpha-5-chain gene on a long arm of X-chromosome in genotypes of both patients and their mothers. Genetical, clinical, morphological, evolutional and diagnostic aspects of Alport's syndrome are reviewed.