Alport’s syndrome (AS) and benign familial haematuria (BFH) are congenital nephropathies with a different prognosis. The authors present, based on a review of contemporary literature, detailed diagnostic possibilities of both clinical entities. They draw attention in particular to the high rate of BFH in children with intractable haematuria. The authors mention recent advances in molecular diagnosis of AS and BFH incl. activities in the Czech Republic. Paediatricians should be well informed on this problem as child patients can in many instances be spared (in particular in BFH) unnecessary invasive examinations.

        Key words: Alport’s syndrome, benign familial haematuria, clinical, morphological and molecular genetic diagnosis