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Blunted Osmopressor Response in Familial Dysautonomia
Author(s) -
Goulding Niamh Elisha,
NorcliffeKaufmann Lucy J,
Kaufmann Horacio
Publication year - 2013
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.27.1_supplement.689.9
Subject(s) - familial dysautonomia , efferent , medicine , dysautonomia , endocrinology , reflex , supine position , osmoreceptor , cardiology , anesthesia , afferent , vasopressin , disease
In patients with chronic autonomic failure (AF), drinking water increases mean blood pressure (MBP). This is an “osmopressor” response mediated by osmoreceptors on afferent neurons with their cell bodies in the dorsal root ganglia (DRG). Osmoreceptor activation triggers sympathetic excitation via a spinal reflex. Familial dysautonomia (FD) is a genetic disease that affects the development of primary afferent neurons with cell bodies in the DRG, but leaves efferent sympathetic neurons functionally intact. Our objective was to investigate whether this osmopressor response was present in FD. Beat‐to‐beat BP and RR intervals were recorded for 10 minutes prior and for 30 minutes after ingesting 500ml of water while supine. Thirty minutes after the water, MBP was significantly higher in the patients with AF than in those with FD (Δ15±5mmHg and Δ0±4mmHg respectively, P<0.01). Area under the curve also differed significantly between groups (191±25 and 387±55 mmHg/min, P<0.004). Blunting of the osmopressor response to water in patients with FD suggests that the congenital mutation affects osmosensory neurons.