Search results for "aldosteronism"
showing 10 items of 16 documents
Il neonato che “sa di sale”
2021
Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease due to the peripheral resistance to aldosterone. Clinical spectrum with neonatal onset includes salt loss, hyponatremia, hypochloraemia, hyperkalaemia, metabolic acidosis and increased plasmatic levels of aldosterone. Two forms of the disease - renal and systemic – have been described, which are genetically distinct and with wide clinical expressivity. The most severe generalized PHA1 is caused by mutations in the genes encoding for the subunits of the epithelial sodium channels (ENaC). The paper reports the case of a newborn of the first pregnancy of healthy and consanguineous Sicilian parents, with a clinical and hormonal pic…
The Effect of Tyramine, Noradrenaline, and Angiotensin on the Blood Pressure in Hypertensive Patients with Aldosteronism and Low Plasma Renin
1970
The reactivity to the pressor action of tyramine, noradrenaline, and angiotensin was determined in 9 patients with hypertension, aldosteronism and low plasma renin concentration (4 patients with solitary adrenal adenomas, 3 patients with nodular adrenal hyperplasia, 2 patients with unknown adrenal status). In 7 patients tests were repeated following unilateral or subtotal adrenalectomy respectively. For comparison, 5 patients with phaeochromocytoma, 10 patients with benign essential hypertension, and 12 normotensive control subjects were studied. — In the hypertensive patients with aldosteronism and low plasma renin, responsiveness to tyramine was significantly reduced. In contrast, pressor…
Hypermineralocorticoidism and hypertension
1971
Die mit Hypokaliamie, Uberproduktion von Mineralocorticoiden (Aldosteron und/oder Corticosteron und Desoxycorticosteron) und Aktivitatsanderungen des Renin-Angiotensinsystems einhergehenden Hochdrucksformen werden beschrieben. Sie lassen sich nach willkurlich gewahlten biochemischen Kriterien in drei Gruppen einteilen: a) Hypermineralocorticoidismus mit Reninsuppression und Aldosteronismus, b) Hypermineralocorticoidismus mit Reninund Aldosteronsuppression und c) Hypermineralocorticoidismus mit erhohtem Plasmarenin und Aldosteronismus. Jede dieser Gruppen besteht aus mehreren Syndromen, die sich durch ihr adrenocorticales Sekretionsmuster und/oder ihre morphologischen Nebennierenrindenverand…
Urinary tetrahydroaldosterone as a screening method for primary aldosteronism: a comparative study
2003
Abstract Background The major aldosterone metabolite 3α,5β tetrahydroaldosterone reflects up to 45% of the aldosterone secretion. Its 24-h urinary excretion is likely to provide an accurate index of the daily aldosterone production and to be an indicator for primary aldosteronism (PA). Methods In a prospective study, the validity of tetrahydroaldosterone as a screening test for PA was evaluated in comparison to serum potassium, plasma aldosterone, plasma renin activity, plasma aldosterone/renin activity ratio (PARR), as well as 24-h urinary aldosterone-18-glucuronide and free aldosterone. A total of 111 normotensive individuals, 412 PA patients and 1453 essential hypertensive patients, were…
Long-Term Results of Endoscopic Adrenalectomy for Conn's Syndrome
2007
The long-term effect of adrenalectomy on aldosterone-producing adenomas of the adrenal gland is controversially discussed. The aim of this study was to analyze the long-term course, with special consideration of factors of persisting hypertension after endoscopic adrenalectomy, for Conn's syndrome. Between February 1994 and March 2004, 40 patients with Conn's syndrome underwent endoscopic adrenalectomy. Data were recorded prospectively. Adrenalectomy was carried out unilaterally in all patients. Twenty-three patients (57.5%) were women; the median age was 51.7 (31.2–71.4) years. Preoperatively, all patients presented with arterial hypertension persisting over a median period of 84 (5–240) …
[Fetal pseudohypoaldosteronism: rare cause of hydramnios].
2005
PHA is a rare cause of hydramnios, characterized by increased amniotic fluid levels of aldosterone and sodium. Two distinct genetic entities (PHA type I and PHA type II) are included. Both are stemmed by a target organ defect with diminished renal tubular responsiveness to aldosterone. The AA present a case in which pregnancy resulted in a preterm infant with severe hydramnios, metabolic acidosis, hyponatriemia, hyperkaliemia. Salt and fluid replacement significantly improved clinical and metabolic condition. However a growth deficiency (-2 SDS) persists at follow-up.
PSYCHIATRIC DISTURBANCE LEADING TO POTASSIUM DEPLETION, SODIUM DEPLETION, RAISED PLASMA-RENIN CONCENTRATION, AND SECONDARY HYPERALDOSTERONISM
1968
Abstract Nine psychiatrically disturbed women were studied, variously suffering from the effects of anorexia nervosa, vomiting, and abuse of diuretics and purgatives. Each had more than one source of electrolyte depletion, and each deliberately concealed at least one of these. All were potassium-depleted, and in all but one sodium depletion was also evident. During exacerbations plasma-renin concentration was raised, secretion-rate and plasma concentration of aldosterone were increased, and the metabolic clearance of aldosterone was diminished. It is suggested that in combined sodium and potassium deficiency, conservation of sodium may be relatively more effective than that of potassium, an…
Haemodynamics of primary aldosteronism associated with adrenocortical adenoma: insights from bioimpedance cardiography measurements
2020
In mid 1950s, Dr Jerome Conn described a patient with hypertension, and renal potassium wasting associated with adrenocortical adenoma and increased urinary excretion of a sodium-retaining hormone, initially termed electrocortin, which was subsequently shown to be aldosterone. This was the first full report of primary hyperaldosteronism associated with an aldosterone-producing adenoma (APA). It subsequently became apparent that similar abnormalities can occur in the absence of an adrenocortical tumor, and it is now recognized that the APA is just one of many subtypes of primary aldosteronism (PA).
�ber das Syndrom des prim�ren Hyperaldosteronismus bei Nierenarteriendrosselung
1963
1. Die potentiellen Schwierigkeiten einer differentialdiagnostischen Trennung zwischen primarem und sekundarem Hyperaldosteronismus werden besprochen.
KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron
2012
Familial hyperkalemic hypertension (FHHt) is a Mendelian form of arterial hypertension that is partially explained by mutations in WNK1 and WNK4 that lead to increased activity of the Na(+)-Cl(-) cotransporter (NCC) in the distal nephron. Using combined linkage analysis and whole-exome sequencing in two families, we identified KLHL3 as a third gene responsible for FHHt. Direct sequencing of 43 other affected individuals revealed 11 additional missense mutations that were associated with heterogeneous phenotypes and diverse modes of inheritance. Polymorphisms at KLHL3 were not associated with blood pressure. The KLHL3 protein belongs to the BTB-BACK-kelch family of actin-binding proteins tha…