Alportův syndrom a benigní familiární hematurie

Alports’s Syndrome and Benign Familial Haematuria

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

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