Bardet-Biedl syndrome - aspects of nephro-urology and human genetics.

Bardet-Biedl syndrome is a genetically heterogeneous autosomal recessive co mplex of features in which five gene loci have been described up to now. Th e diagnosis of this rare syndrome is based on the main manifestations hypog onadism, age-dependent increasing obesity and reduction of renal function, age-dependent progressive retinal degeneration with blindness as well as po staxial polydactyly and mental retardation. The life expectancy is short. P roblems of early diagnostics, secondary hyperparathyroidism as well as surg ical reconstruction of the genitals and kidney replacement therapy are disc ussed.