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2016 ; 7
(2
): 62-71
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Bardet-Biedl Syndrome
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Suspitsin EN
; Imyanitov EN
Mol Syndromol
2016[May]; 7
(2
): 62-71
PMID27385962
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Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. It is
characterized by heterogeneous clinical manifestations including primary features
of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities,
renal defects, and learning difficulties) and secondary BBS characteristics
(developmental delay, speech deficit, brachydactyly or syndactyly, dental
defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus,
congenital heart disease, etc.); most of these symptoms may not be present at
birth but appear and progressively worsen during the first and second decades of
life. At least 20 BBS genes have already been identified, and all of them are
involved in primary cilia functioning. Genetic diagnosis of BBS is complicated
due to lack of gene-specific disease symptoms; however, it is gradually becoming
more accessible with the invention of multigene sequencing technologies. Clinical
management of BBS is largely limited to a symptomatic treatment. Mouse
experiments demonstrate that the most debilitating complication of BBS,
blindness, can be rescued by topical gene therapy. There is a published case
report describing the delay of BBS symptoms by nutritional compensation of the
disease-related biochemical deficiencies. Progress in DNA testing technologies is
likely to rapidly resolve all limitations in BBS diagnosis; however, much slower
improvement is expected with regard to BBS treatment.
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