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Early-onset heredit...
Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family
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- Fagius, Jan (författare)
- Uppsala universitet,Neurologi
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- Klar, Joakim, PhD, 1974- (författare)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi
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- Dahl, Niklas (författare)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi
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(creator_code:org_t)
- Springer Berlin/Heidelberg, 2023
- 2023
- Engelska.
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Ingår i: Clinical Autonomic Research. - : Springer Berlin/Heidelberg. - 0959-9851 .- 1619-1560. ; 33:4, s. 421-432
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Abstract
Ämnesord
Stäng
- Methods One severely affected individual underwent thorough investigation with neurophysiological and blood pressure (BP) measurements, including direct recording of baroreflex-governed sympathetic nerve signalling and induction of BP rise with phenylephrine. Family members underwent parts of the examination. Genetic analysis using exome sequencing was performed.Results Marked postural hypotension with greatly reduced cardiac preload was observed, but without signs of autonomic nervous system dysfunction: sympathetic nerve signalling was normal, as were catecholamine levels, and phenylephrine stimulation revealed a normal increase in BP. The results of the genetic analysis using exome sequencing comprising all known genes associated with the regulation of BP and catecholamine metabolism were normal.Conclusion The combined findings suggest an autosomal dominant form of early-onset orthostatic hypotension with variable clinical expression and without any additional autonomic dysfunction. It is possible that further investigation will reveal an as yet undescribed entity of orthostatic hypotension transmitted as an autosomal dominant trait.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Nyckelord
- Orthostatic hypotension
- Autonomic nervous system
- Microneurography
- Autosomal dominant hereditary disorder
- Neurology
- Neurologi
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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