Bardet- Biedl- syndrome

Last updated on: 12.03.2021

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Occurrence/Epidemiology
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The incidence is 1: 160,000 in Northern Europe and higher in some Arab populations at 1: 13,500 (Forsythe 2013).

Etiopathogenesis
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There is an autosomal recessive inheritance with 16 genes identified to date (Forsythe 2013).

Clinical features
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The syndrome is characterized by the following symptoms:

  • mental retardation
  • retinopathy (Beetz 2013)
  • AdipDositas
  • Polydactyly
  • malformations of the kidneys
  • Hypogenitalism in male patients
  • (Risler 2008)

Diagnostics
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The diagnosis is usually based on the above-mentioned clinical abnormalities and on genetic testing (Forsythe 2013).

Therapy
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Treatment consists of regular multidisciplinary monitoring (Forsythe 2013).

Literature
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  1. Bartels H (2013) Spatial damage of the kidney in sonographic images: textbook and atlas. Springer Verlag 121
  2. Beetz R et al (2011) Pediatric urology in clinic and practice. Thieme Verlag 256
  3. Berwanger B et al. (2002) Alström syndrome: a differential diagnosis to Bardet- Biedl syndrome. A differential diagnosis to Bardet- Biedl- syndrome. Monatsschrift Kinderheilkunde (150) 58 - 61
  4. Braune K (2017) Characterization of ALMS1 (Alstrom syndrome 1) transcripts in Hodgkin lymphoma cells. Dissertation for the degree of Doctor of Medicine (Dr. med.) submitted to the Medical Faculty of Martin Luther University Halle-Wittenberg.
  5. Danne T et al. (2016) Obesity, diabetes and dyslipidemia in childhood. Walter de Gruyter Publishers 5
  6. Deeg K H et al (2014) Ultrasound diagnostics in pediatrics and pediatric surgery. Thieme Verlag 864 - 866
  7. Engelskirchen R et al. (2006) Asphyxiating thoracic dysplasia (Jeune syndrome): successful multi-stage correction. Monthly Journal of Pediatrics (12)
  8. Entezami M et al. (2002) Sonographic diagnosis of malformation: teaching atlas of fetal ultrasonography. Selected syndromes and associations. Thieme Publishers 245
  9. Forsythe E et al (2013) Bardet- Biedl- syndrome. Eur J Hum Genet 21, 8 - 13. https://doi.org/10.1038/ejhg.2012.115.
  10. Ganten D et al (2013) Monogenic inherited diseases 2: handbook of molecular medicine. Springer Verlag 291 - 292
  11. Gimpel C et al. (2019) Imaging diagnosis in children with renal cysts and cystic kidneys. Monthly Journal of Pediatrics (167) 530 - 538.
  12. Hegele A et al. (2015) Urology: intensive course for continuing education. Thieme Verlag 117 - 121, 124 - 129
  13. Heinrich M et al (2019) Pediatric surgery: basic knowledge and practice. W. Zuckschwerdt Publishers 192 - 193.
  14. Herold G et al (2021) Internal medicine. Herold Publishers 630 - 634
  15. Hofmann V et al. (2005) Ultrasound diagnostics in pediatrics and pediatric surgery. Georg Thieme Publishers 439, 453 - 454
  16. Kasper D L et al (2015) Harrison's Principles of Internal Medicine. Mc Graw Hill Education 1850 - 1856
  17. Kasper D L et al (2016) Harrison's internal medicine. Georg Thieme Publishers 2279 - 2285
  18. Keller C K et al (2010) Practice of nephrology. Springer Verlag 43 - 51, 53 - 54
  19. Kemper M et al. (2020) S2k-guideline renal cysts and cystic kidney disease: renal cysts and cystic kidney disease in children. AWMF Register No. 166 / 003
  20. Knaup K X et al (2019) Autosomal dominant tubulointerstitial kidney disease (ADTKD). The Nephrologist. DOIhttps://doi.org/10.1007/s11560-019-0318-y
  21. Korinthenberg R et al (2009) Neuropediatrics: evidence-based therapy. Urban and Fischer Publishers 19
  22. Kuhlmann U et al. (2015) Nephrology: pathophysiology - clinic - renal replacement procedures. Thieme Verlag 64, 653 - 665
  23. Lerchbaumer M H (2018) "The Bosniak classification of renal cysts in contrast-enhanced ultrasound (CEUS) comparative to computed tomography and magnetic resonance imaging" Inaugural dissertation for the degree of Doctor medicinae (Dr. med.) submitted to the Medical Faculty Charité - Universitätsmedizin Berlin.
  24. Manski D (2019) The urology textbook. Dirk Manski Publishers 231 - 236
  25. Michels G et al. (2010) Clinic manual internal medicine Springer Verlag 504 - 505.
  26. Risler T et al (2008) Specialist nephrology. Elsevier Urban and Fischer Publishers 372 - 373, 752 - 754
  27. Schmidt F et al. (2006) Rosiglitazone long-term therapy in patients with Alström- Hallgren syndrome. Diabetology and Metabolism 1 (3) 168 - 172.
  28. Sohn C et al (2013) Ultrasound in gynecology and obstetrics. Thieme Verlag 243 - 244

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Rin2 gene;

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Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

Last updated on: 12.03.2021