ABSTRACT
In some patients with familial dysautonimia, plasma renin activity shows a paradoxical response to postural stimuli, i.e., levels of plasma renin activity are high when the patient is in the supine position and fall significantly during subsequent ambulation. Furthermore, there is no coordinated release of plasma renin activity and aldosterone. The aim of the present study was to determine whether these findings are accompanied by a disturbance of salt conservation. Six patients were studied in a summer camp while on normal and low-salt diets. Plasma and urinary aldosterone levels rose sharply and appropriately when four of the patients were placed on a low-sodium diet. In these subjects, urinary sodium output fell sharply although three of them failed to attain sodium equilibrium by the third day of the low-sodium regimen. Elevation of early morning plasma renin activity appeared to correlate with an inversion in the normal day-night rhythm in urinary volume.
Subject(s)
Dysautonomia, Familial/metabolism , Sodium Chloride/metabolism , Adolescent , Adult , Aldosterone/blood , Aldosterone/urine , Child , Diet , Dysautonomia, Familial/blood , Dysautonomia, Familial/urine , Humans , Posture , Potassium/blood , Potassium/urine , Renin/blood , Sodium/blood , Sodium/urineABSTRACT
Norepinephrine concentration and dopamine-beta-hydroxylase activity were measured in the plasma of 10 dysautonomic patients and 10 normal subjects while they were reclining, standing and exercising. While reclining, dysautonomic patients had normal norepinephrine concentrations and blood pressure, but after standing they did not have a normal increase in their levels of norepinephrine (P less than 0.005), dopamine-beta-hydroxylase (P less than 0.05) or plasma protein concentration (P less than 0.01); they became hypotensive. In reclining dysautonomic patients there appeared to be a correlation between blood pressure and plasma norepinephrine concentration. These data support the view that hypertension and hypotension in dysautonomia are related to the rate of norepinephrine release.
Subject(s)
Dopamine beta-Hydroxylase/metabolism , Dysautonomia, Familial/physiopathology , Norepinephrine/metabolism , Sympathetic Nervous System/physiopathology , Adolescent , Adult , Blood Pressure , Blood Proteins/analysis , Dopamine beta-Hydroxylase/blood , Dysautonomia, Familial/blood , Dysautonomia, Familial/urine , Female , Heart Rate , Humans , Male , Nerve Endings/metabolism , Norepinephrine/blood , Physical Exertion , Pulse , Sympathetic Nervous System/metabolism , Vanilmandelic Acid/urineABSTRACT
A case of new dysautonomia-like disorder in a Japanese infant is reported. The patient showed almost all of the essential criteria for the diagnosis of familial dysautonomia. Results of pharmacologic tests and urinary excretion patterns of catecholamines and their metabolites were also compatible with the disorder. But he lacked some important clinical findings, such as lifelong hypolacrimia, skin blotching, excessive sweating and labile blood pressure. Precise observations of clinical features and literatures on non-Jewish cases of familial dysautonomia lent evidence that this case suffered from a new dysautonomia-like disorder.
