[Bardet-Biedl syndrome: aspects of nephro-urology and human genetics].
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.
Urologische Klinik u. Poliklinik, Universität Bonn.
P
P
Brühl
G
G
Schwanitz
R
R
Mallmann
S C
SC
Müller
R
R
Raff
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D020788:Bardet-Biedl Syndrome / Q000150:complications / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D007223:Infant; D007231:Infant, Newborn; D007674:Kidney Diseases / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D016030:Kidney Transplantation; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009765:Obesity / Q000209:etiology; D010641:Phenotype; D011379:Prognosis
D007166:Immunosuppressive Agents