Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1762617 (weakness)
 37,932 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Liddle's syndrome was diagnosed in a 72-year-old man who presented clinically with hypertension and muscle weakness. This disorder has been characterized by hyporeninemic hypoaldosteronism, hypertension, hypokalemia and enhanced erythrocyte sodium influx. Administration of spironolactone failed to correct the hypertension and electrolyte abnormality, which subsequently improved with triamterene therapy and a low salt diet. However, suppression of the renin-angiotensin-aldosterone system remained unchanged after this treatment. In addition, an atrophic juxtaglomerular apparatus and hypertensive lesions in the arterioles were confirmed by kidney biopsy after triamterene therapy. Therefore, a process of intrinsic hyperactive distal sodium reabsorption, probably affected by aldosterone-independent sodium transport into erythrocytes, appears to be important in the pathogenesis of this syndrome. Triamterene therapy, which usually is performed in patients with this disease, might not be the ultimate therapy in the future even if electrolyte abnormalities were to be improved temporarily.
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PMID:Liddle's syndrome, an uncommon form of hyporeninemic hypoaldosteronism: functional and histopathological studies. 355 Jan 46

A 78-year-old woman with hypertension was hospitalized with acute bronchitis. However, she was also found to have hypernatremia, hypokalemia, and metabolic alkalosis. Detailed examination showed a low plasma renin activity and plasma aldosterone concentration. A provisional diagnosis of Liddle's syndrome was established and the patient was successfully treated with triamterene. Although Liddle's syndrome is generally considered an inherited hypertensive disease found in young people, a review of the literature indicated that muscle weakness is an important clinical finding in elderly patients with this disease. Liddle's syndrome should be considered in the differential diagnosis of hypertension even in elderly individuals.
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PMID:Liddle's syndrome in an elderly woman. 963 Feb

A 54-year-old woman with diabetes mellitus was hospitalized with generalized edema and weakness. She was also found to have hypertension, hypokalemia and metabolic alkalosis. Detailed examination showed subnormal plasma renin activity and plasma aldosterone concentration. Adrenal CT scanning revealed no adrenal tumor. A successful treatment with amiloride established the diagnosis of Liddle's syndrome for the patient. Liddle's syndrome, a rare hereditary disease usually found in young patients, should be considered in the differential diagnosis of hypertension even in elderly individuals.
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PMID:Liddle's syndrome: a report in a middle-aged woman. 1081 31

About 3% of our hypertensive patients have high blood pressure induced by corticosteroids. Muscle weakness, tiredness, polyuria and polydipsia may indicate hypokalaemia. Hypokalaemic hypertension in the presence of a low plasma renin activity is the typical finding of corticosteroid hypertension. The most frequent cause of corticosteroid hypertension is primary aldosteronism (Conn's syndrome) due to an adrenal adenoma or bilateral hyperplasia of the adrenal glands. The plasma concentration of aldosterone and the ratio between plasma aldosterone and renin concentrations are high, and the kaliuresis exceeds 30 mmol/24 h in the presence of hypokalaemia. Adrenal carcinomas are rare and very malignant. The localization of an adrenal tumour is made by computer tomography (CT-scan) or nuclear magnetic resonance imaging and by measurement of the aldosterone/cortisol concentrations in the adrenal venous blood. Adenomas are removed under laparoscopy, and adrenal hyperplasias are treated with spironolactone (50-400 mg daily) or amiloride (5-30 mg daily). In rare cases (<1%), excessive stimulation of the mineralocorticoid receptor is due to cortisol (apparent mineralocorticoid excess, Cushing's disease, liquorice, or hereditary deficiency of 11beta-hydroxysteroid dehydrogenase) or to a chimeric gene coding for 11beta-hydroxylase (CYP11B1/CYP11B2). In these rare cases, the synthesis of aldosterone is under the control of the adrenocorticotrophic hormone, so treatment with glucocorticoids (dexamethasone 0.25-1.0 mg daily) is therefore possible (glucocorticoid-remediable aldosteronism). Excessive deoxycorticosterone (DOC) causes the same symptoms and signs as hyperaldosteronism. Excessive DOC is found in patients with adrenal tumours that secrete DOC, in those with hereditary or acquired disorders with dysfunctioning glucocorticoid receptors, or in those with congenital hyperplasia of the adrenal glands (deficiency of 17alpha-hydroxylase or 11beta-hydroxylase). Liddle's syndrome is a constitutive hyperactivity of the transepithelial transport of sodium, which under normal conditions is controlled by the mineralocorticoid receptor. Plasma renin and aldosterone concentrations are suppressed and the plasma potassium concentration may be normal. In contrast, plasma aldosterone and renin concentrations are increased in patients with hypokalaemic hypertension which represents secondary aldosteronism. The increased aldosterone is the consequence of stimulated renin activity due to renal or renovascular or other disorders, antihypertensive drugs or other medications. In conclusion, a work-up for corticosteroid-induced hypertension is indicated in patients with hypokalaemic hypertension and in those with severe hypertension even in the absence of hypokalaemia, and in hypertensive patients with a family history of cardiovascular diseases.
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PMID:Investigating mineralocorticoid hypertension. 1292 4

Hypokalemia is associated with some renal diseases manifested by renal tubular acidosis (type I and II) or by renal tubular syndrome (Bartter's, Gitelman's and Liddle's syndrome). Bartter's syndrome, originally described by Batter and colleagues in 1962, is a set of closely related renal tubular disorders characterized by hypokalemia, hypochloremia, metabolic alkalosis and hyperreninemia with normal blood pressure. The underlying renal abnormality results in excessive urinary losses of sodium, chloride, potassium and calcium. Muscle weakness, polydipsia, polyuria and mental retardation can be also present. Affected children have poor growth rates and they appear malnourished. The article is focused on ethiopathogenesis, laboratory and clinical characteristics and on the treatment of Bartter's syndrome.
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PMID:[Bartter's syndrome--hypokalemic renal tubular syndrome]. 1462 62

A case of Liddle's syndrome showing weakness, hypertension, metabolic alkalosis and hypokalemia, identifiable as Liddle's syndrome, allows us to face the differential diagnosis among ionic dysfunctions, as primitive and secondary hyperaldosteronism, hypercorticism and pseudohyperaldosteronism. We discuss hypokalemia due to reduced potassium pool, or referable to altered ionic redistribution without losses. Concerning the treatment of important hypokalemia, we face manners and times of intravenous administration of potassium salts, potassium-sparing diuretics and supplementation per os; besides, we stress the dietetic contribution of rich in potassium foods, for the correction of the light hypokalemia and against deficit of pool referable to the long-term diuretic therapy.
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PMID:[Differential diagnosis in hypokalemia. A case of Liddle syndrome]. 1507 93

A thirty-eight years old female presented with frequent proximal weakness, severe hypertension, and persistent kaliuresis despite hypokalemia. After normalized serum potassium level, hyporeninemic hypoaldosteronism was detected Pedigree study supported an autosomal dominant inherited disease. A causative mutation for Liddle's syndrome (LS) in this patient was identified to be a novel frameshift mutation. DNA sequencing resulted in exon 13 of SCNN1B gene: SCNN1B NM_000336.2:c.1 724_1730dupGGCCCAC [p.Pro5 75Argfs*17]. Since LS is a rare existing clinical syndrome in Thailand, correct diagnosis should be confirmed by genetic studies. Therefore, proper management could be given.
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PMID:Liddle's Syndrome: A Case Report. 2663 96