hyperaldosteronism/crise épileptique

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[The third case report a patient with primary aldosteronism, seizures, and neurologic abnormalities (PASNA) syndrome de novo variant mutations in the CACNA1D gene].

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Germline mutations in CACNA1D cause the primary aldosteronism, seizures, and neurologic abnormalities (PASNA) syndrome (OMIM# 615474) characterized by primary aldosteronism, seizures and neurological abnormalities. The authors present a case-report of a 1-year 3-month male patient with neurological

Infantile hypertrophic pyloric stenosis presenting as pseudo-Bartter's syndrome and seizures: report of one case.

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We report a hypertrophic pyloric stenosis case with an unusual initial presentation of seizures and Bartter's syndrome like symptoms. This case suffered from vomiting, diarrhea and poor appetite for several days, and seizures developed after these symptoms. From laboratory tests, hypochloremic and

An isotopic diagnosis of seizure.

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A 22-year-old healthy woman visited our clinic for seizure and consciousness loss. A thorough history taking and physical examination was negative except for persistent high blood pressure. Serial workup for suspicious secondary hypertension revealed secondary hyperaldosteronism. Further image study

[A case of postoperative convulsive seizure following tranexamic acid infusion during aortic valve replacement].

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We present a case of postoperative convulsive seizure in an 84-year-old man who underwent an aortic valve replacement. The patient had hypertension associated with hyperaldosteronism and chronic interstitial nephritis. The duration of cardiopulmonary bypass was 74 min. A generalized seizure lasting

SFE/SFHTA/AFCE consensus on primary aldosteronism, part 5: Genetic diagnosis of primary aldosteronism.

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While the majority of cases of primary aldosteronism (PA) are sporadic, four forms of autosomal-dominant inheritance have been described: familial hyperaldosteronism (FH) types I to IV. FH-I, also called glucocorticoid-remediable aldosteronism, is characterized by early and severe hypertension,

Novel genes in primary aldosteronism.

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OBJECTIVE Novel high-throughput genetic techniques have increased the pace of discoveries in the field of primary aldosteronism. Mutations in the potassium channel gene KCNJ5 are a cause of familial and sporadic forms of primary aldosteronism with around 30-40% of aldosterone-producing adenomas

Seizure and coma secondary to Conn's syndrome: a case report

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Background: Conn's syndrome is a curable condition if identified properly. It is characterized by autonomous secretion of aldosterone from the adrenal gland cortex. Its morbidity is related to the increased risk of cardiovascular

Molecular Basis of Primary Aldosteronism and Adrenal Cushing Syndrome

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This review reports the main molecular alterations leading to development of benign cortisol- and/or aldosterone-secreting adrenal tumors. Causes of adrenal Cushing syndrome can be divided in 2 groups: multiple bilateral tumors or adenomas secreting cortisol. Bilateral causes are mainly primary

Gitelman Syndrome: A Rare Cause of Seizure Disorder and a Systematic Review.

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Gitelman syndrome is one of the few inherited causes of metabolic alkalosis due to salt losing tubulopathy. It is caused by tubular defects at the level of distal convoluted tubules, mimicking a thiazide-like tumor. It usually presents in late childhood or in teenage as nonspecific weakness,

An Update on Familial Hyperaldosteronism.

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Familial forms of primary aldosteronism have been suggested to account for up to 6% of cases in referral centers. For many years, the genetics of familial hyperaldosteronism remained unknown, with the notable exception of glucocorticoid-remediable aldosteronism, due to unequal crossing over and

A DE NOVO CACNA1D MISSENSE MUTATION IN A PATIENT WITH CONGENITAL HYPERINSULINISM, PRIMARY HYPERALDOSTERONISM AND HYPOTONIA.

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Congenital hyperinsulinemic hypoglycemia is the most frequent cause of persistent and recurrent hypoglycemia in the first years of life and in many patients rare genetic variants can be identified. Recently a case of congenital hyperinsulinemic hypoglycemia and a severe neurodevelopmental syndrome

GENETICS IN ENDOCRINOLOGY: The expanding genetic horizon of primary aldosteronism.

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Aldosterone is the main mineralocorticoid hormone in humans and plays a key role in maintaining water and electrolyte homeostasis. Primary aldosteronism (PA), characterized by autonomous aldosterone overproduction by the adrenal glands, affects 6% of the general hypertensive population and can be

[Pseudohypoaldosteronism type 1: an uncommon electrolyte emergency. Report of four cases].

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Pseudohypoaldosteronism type 1 is a rare syndrome of resistance to aldosterone manifested by salt wasting, hyponatremia, hyperkalemia, hyperchloremic metabolic acidosis, and hiperreninemic hyperaldosteronism. The syndrome may be genetic, secondary to uropathies and urinary tract infection among

[The Gitelman syndrome--a differential diagnosis of Bartter syndrome].

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BACKGROUND Hypokalemia due to renal potassium wasting in the absence of hypertension, moderate metabolic alkalosis, hyperreninism and hyperaldosteronism suggest the presence of Bartter's syndrome. The underlying cause is an inherited defect of sodium chloride reabsorption in the thick ascending limb

Metabolic complications of the use of stomach for urinary reconstruction.

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A total of 34 children with normal renal function underwent either gastrocystoplasty or continent urinary reservoirs with stomach at our institutions. Severe hypochloremic hypokalemic metabolic alkalosis developed in 2 patients, manifested by intractable seizure disorder in 1 and altered mental

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