Medicine:Hypertension and brachydactyly syndrome

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Hypertension and brachydactyly syndrome
Other namesBrachydactyly-arterial hypertension syndrome
Autosomal dominant - en.svg
This condition is inherited in an autosomal dominant manner.

Hypertension and brachydactyly syndrome (HTNB), also known as Bilginturan syndrome and brachydactyly type E among others, is a very rare genetic disorder.[1][2]

It was first reported in 1973 by N. Bilginturan et al.[3][4] The estimated prevalence is less than 1 out of 1,000,000.[2]

Symptoms

The disorder is characterized by:

  • severe salt-independent but age-dependent hypertension
  • brachydactyly malformations of the hands and fingers
  • increased fibroblast growth rate
  • neurovascular contact at the rostral-ventrolateral medulla
  • altered baroreflex blood pressure regulation
  • death from stroke before age 50 years when untreated

Genetics

The disorder is thought to be related to mutations in the PDE3A gene.[1][5]

Treatment

References

  1. ↑ 1.0 1.1 "HYPERTENSION AND BRACHYDACTYLY SYNDROME; HTNB" (in en-us). https://www.omim.org/entry/112410. 
  2. ↑ 2.0 2.1 "Brachydactyly arterial hypertension syndrome" (in en). http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1276. 
  3. ↑ Chitayat, D.; Grix, A.; Balfe, J. W.; Abramowicz, J. S.; Garza, J.; Fong, C. T.; Silver, M. M.; Saller, D. N. et al. (1997-12-19). "Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two families". American Journal of Medical Genetics 73 (3): 279–285. doi:10.1002/(SICI)1096-8628(19971219)73:3<279::AID-AJMG10>3.0.CO;2-G. ISSN 0148-7299. PMID 9415685. 
  4. ↑ Bilginturan, N.; Zileli, S.; Karacadag, S.; Pirnar, T. (1973-09-01). "Hereditary Brachydactyly Associated with Hypertension". Journal of Medical Genetics 10 (3): 253–259. doi:10.1136/jmg.10.3.253. ISSN 0022-2593. PMID 4774535. 
  5. ↑ Maass, Philipp G.; Aydin, Atakan; Luft, Friedrich C.; Schächterle, Carolin; Weise, Anja; Stricker, Sigmar; Lindschau, Carsten; Vaegler, Martin et al. (2015-06-01). "PDE3A mutations cause autosomal dominant hypertension with brachydactyly". Nature Genetics 47 (6): 647–653. doi:10.1038/ng.3302. ISSN 1546-1718. PMID 25961942. http://edoc.mdc-berlin.de/14795/1/14795oa.pdf. 

External links

Classification
External resources



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