Fabry's disease: a multidisciplinary disorder.

Fabry's disease is an X-linked hereditary disorder resulting in accumulation of a glycolipid (galactosylgalactosyl glucosylceramide) due to deficiency of alpha-galactosidase A. The diagnosis can be made by histopathologic examination of skin biopsy, low activity of alpha-galactosidase in leucocytes and genetic examination. Treatment is symptomatic. We want to stress the multidisciplinary collaboration necessary to deal with this condition, in order to prevent acceleration of symptoms.

Pathophysiologic features of hypertension in young men.

Physiologic studies were performed in 17 normotensive and 13 borderline hypertensive young male subjects, and repeated in 11 and 10 subjects, respectively, after two years. The criteria for normal blood pressure (systolic 120 mm Hg) and borderline hypertension (systolic 140 to 160 mm Hg) had been applied after a long introductory period of observation; nevertheless, the borderline hypertensive group turned out to be normotensive at the time of the second physiologic investigation. The main physiologic characteristics of the group with transient hypertension were overweight, increased total systemic vascular resistance, slightly decreased plasma and blood volume, slightly decreased plasma renin and noradrenaline levels, and significantly increased renal blood flow. Both overweight, increased vascular resistance, and increased renal blood flow persisted after normalization of blood pressure. A unifying concept is lacking.

Effects of acute and long-term beta-adrenoceptor blockade with propranolol on haemodynamics, plasma catecholamines and renin in essential hypertension.

The effect of an acute intravenous and repeated oral doses of propranolol on haemodynamics, plasma and urinary catecholamines and plasma renin activity was studied in patients with essential hypertension. Intravenous injection of propranolol 5 mg produced a fall in cardiac output but had no consistent effect on blood pressure. Treatment with oral propranolol for 24 weeks lowered cardiac output and blood pressure; total peripheral resistance did not differ from the pretreatment values. Neither acute intravenous nor chronic oral administration of the beta-blocker affected the resting plasma levels of noradrenaline and adrenaline. Long-term treatment with propranolol reduced urinary excretion of vanilmandelic acid without affecting urinary catecholamine excretion. Acute intravenous injection of propranolol decreased plasma renin activity less than did chronic oral treatment with the drug. The observed time course of plasma renin activity was compatible with the view that suppression of this enzyme contributed to the antihypertensive effect of propranolol.

Influence of dobutamine and dopamine on hemodynamics and plasma concentrations of noradrenaline and renin in patients with low cardiac output following acute myocardial infarction.

The comparative hemodynamic effects of dobutamine and dopamine were studied in 6 patients with low cardiac output resulting from acute myocardial infarction. Plasma levels of noradrenaline and renin were measured before and during a 5 microgram/kg/min infusion of each of the drugs. Dobutamine had a more pronounced chronotropic effect, increased the systolic arterial pressure more and decreased the systemic vascular resistance less than dopamine at doses which had comparable effects on cardiac output. Dobutamine stimulated renin release, which might partly be the cause of the increased systolic arterial pressure. The drug reduced the plasma level of noradrenaline, which might be explained as a reflex reduction in sympathetic tone. Dopamine, however, did not stimulate renin release but it did enhance the plasma level of noradrenaline, which might be due mainly to the release of endogenous noradrenaline.

Haemodynamic and endocrinological profile of essential hypertension.

In this study the results are presented of the haemodynamic and endocrinological inventarisation of 207 patients with essential hypertension. After establishing the relations of the various parameters with age (part IIA), interrelations between these variables are described (part IIB). The general finding is an increase in total peripheral vascular resistance early in the course of essential hypertension. In particular, this rise in resistance is found in the renal vasculature. In part III emphasis is given to the natural history of essential hypertension on the basis of a follow-up study. Again a rise in renal vascular resistance is found. As pointed out in the discussion (part IV) the cause of the abnormal resistance remains unknown. Emphasis is given to the renin-angiotensin system, which plays only a minor role. Here the factors regulating long-term renin secretion are discussed in favour of the baroreceptor theory.

Effects of beta-adrenergic blockade on diurnal variability of blood pressure and plasma noradrenaline levels.

The effect of propranolol on diurnal variability of BP and plasma noradrenaline levels was assessed in 15 patients with uncomplicated essential hypertension. While total variability and average noradrenaline level remained unaltered, the pressor range (difference between basal and maximum BP readings) was reduced in most patients. An inverse relationship was observed between changes in pressor range and noradrenaline.