Early diagnosis of Bardet-Biedl syndrome associated with obesity

Cover Page

Abstract


One of the urgent problems of modern health care is the increase in the prevalence of obesity among children and adolescents. Late diagnosis and delayed initiation of treatment lead to serious complications such as hypertension, type 2 diabetes mellitus. At present there are quite rare syndromes associated with obesity: Prader-Willi syndrome, Bardet-Biedl, Alström. Bardet-Biedl syndrome, - a disease characterized by obesity central origin, retinitis pigmentosa, polydactyly, mental retardation, hypogonadism, and renal dysfunction.

Endocrinology Research Centre, Moscow

Endocrinology Research Centre, Moscow

Endocrinology Research Centre, Moscow

  1. Козлова С.И. и др. Наследственные синдромы и медико-генетическое консультирование. Москва: Медицина, 1996. С.15-16.
  2. Ansari MR, Junejo AM. Bardet-Biedl syndrome presenting with end stage renal failure. J Coll Physicians Surq Pak. 2006 Jul; 16(7): 487-8.
  3. Beales P.L., Elcioglu N., Woolf A.S., Parker D., Flinter F.A. New criteria for improved diagnosis of Bardet-Biedle syndrome: result of a population survey. J Med Genet.1999 Jun; 36(6): 437-46.
  4. Beales PL, Warner AM, Hitman GA, et al. Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. J Med Genet 1997,34:92-8.
  5. Carmi R, Rokhlina T, Kwitek-Black AE, et al. Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. Hum Mol Genet 1995,4:9-13.
  6. David A.,Bitoun P., Lacombe D., Lambert JC., Nivelon A., Vigneron J., Verloes A. Hydrometrocolpos and polydactyly: fa common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes. J Med Genet. 1999 Aug; 36(8): 599- 603.
  7. Daniella Magen, Nathan Ish-Shalom, Abraham Lorber, Asaad Khoury and Israel Zelikovic An infant with polydactyly and renal anomalies: early diagnosis of a rare syndrome. Nephrol Dial Transplant (2002) 17: 2261-2264.
  8. Hamel GP. Cone rod dystrophies. Orphanet J Rare Dis. 2007 Feb 1; 2:7.
  9. Harnett J. D.; Green J. S.; Cramer B. C.; Johnson G.; Chafe L.; McManamon P.; Farid N. R.; Pryse-Phillips W.; Parfrey P. S. The spectrum of renal disease in Laurence-Moon-Biedl syndrome. New Eng. J. Med. 319: 615-618, 1988.
  10. Hou JW. Bardet-Biedl syndrome initially presenting as McKusick-Kaufman syndrome. J Formos Med Assoc. 2004 Aug; 103(8): 629-32.
  11. Klein D, Ammann F. The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies. J Neurol Sci 1969, 9:479-513.
  12. Kwitek-Black AE, Carmi R, Duyk GM, et al. Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. Nat Genet 1993, 5:392-6.
  13. O`Dea D, Parfrey PS, Harnett JD, Hefferton D, Cramer BC, Green J. The importance of renal impairment in the natural history of Bardet-Biedl syndrome. Am J Kidney Dis. 1996 Jun; 27:776-83.
  14. Walley AJ, Blakemore AI, Froguel P. Genetics of obesity and the prediction of risk for health. Hum Mol Genet. 2006 Oct 15; 15 Spec No 2:R124-30.
  15. Woods MO, Young TL, Parfrey PS, Hefferton D, Green JS, Davidson WS. Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus. Genomics1999; 55: 2-9.

Views

Abstract - 499

PDF (Russian) - 618

Cited-By


Dimensions


Copyright (c) 2008 Volevodz N.N., Eremina I.A., Semicheva T.V.

Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies