Zusammenfassung.
Beim Bardet-Biedl-Syndrom handelt es sich um einen genetisch heterogenen Merkmalskomplex mit autosomal-rezessivem Erbgang, bei dem bisher fünf Gen-Loci beschrieben sind. Die Diagnose dieses Syndroms beruht auf den Hauptmanifestationen Hypogenitalismus, altersabhängige, zunehmende Adipositas und renale Funktionsminderung, altersabhängige, fortschreitende Retinadegeneration mit möglicher Erblindung sowie postaxiale Polydaktylie und geistige Behinderung. Die Lebenserwartung ist eingeschränkt. Es werden Probleme der Frühdiagnostik, des sekundären Hyperparathyreoidismus sowie Fragen der operativen genitalen Rekonstruktion und der Nierenersatztherapie besprochen.
Bardet-Biedl syndrome is a genetically heterogeneous autosomal recessive complex of features in which five gene loci have been described up to now. The diagnosis of this rare syndrome is based on the main manifestations hypogonadism, age-dependent increasing obesity and reduction of renal function, age-dependent progressive retinal degeneration with blindness as well as postaxial polydactyly and mental retardation. The life expectancy is short. Problems of early diagnostics, secondary hyperparathyroidism as well as surgical reconstruction of the genitals and kidney replacement therapy are discussed.
Schlüsselwörter:
Bardet-Biedl-Syndrom - Nephrologie - Bildgebende Nierendiagnostik - Endokrinologie - Urologie - Humangenetik
Key words:
Bardet-Biedl syndrome - nephrology - imaging renal masses - endocrinology - urology - human genetics
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Prof. Dr. Peter Brühl
Klinik und Poliklinik für Urologie der Universität Bonn
Sigmund-Freud-Str. 25
53105 Bonn
