Disease or Syndrome
Liddle syndrome
Subclass of:
Renal Tubular Transport, Inborn Errors
Definitions related to liddle syndrome:
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An autosomal dominant inherited syndrome caused by dysregulation of the amiloride-sensitive sodium channel. It is characterized by early onset hypertension, hypokalemia, metabolic alkalosis, low plasma renin and hypoaldosteronism.NCI ThesaurusU.S. National Cancer Institute, 2021
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An autosomal dominant syndrome caused by dysregulation of the amiloride-sensitive sodium channel, which is characterized by early onset hypertension, hypokalemia, metabolic alkalosis, low plasma renin, and hypoaldosteronism.NICHD Pediatric TerminologyU.S. National Cancer Institute, 2021
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Familial pseudoaldosteronism characterized by autosomal dominant inheritance of hypertension with HYPOKALEMIA; ALKALOSIS; RENIN and ALDOSTERONE level decreases. It is caused by mutations in EPITHELIAL SODIUM CHANNELS beta and gamma subunits. Different mutations in the same EPITHELIAL SODIUM CHANNELS subunits can cause PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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Liddle syndrome is an inherited form of high blood pressure (hypertension). This condition is characterized by severe hypertension that begins unusually early in life, often in childhood, although some affected individuals are not diagnosed until adulthood. Some people with Liddle syndrome have no additional signs or symptoms, especially in childhood. Over time, however, untreated hypertension can lead to heart disease or stroke, which may be fatal. In addition to hypertension, affected individuals can have low levels of potassium in the blood (hypokalemia). Signs and symptoms of hypokalemia include muscle weakness or pain, fatigue, constipation, or heart palpitations. The shortage of potassium can also raise the pH of the blood, a condition known as metabolic alkalosis.MedlinePlus GeneticsU.S. National Library of Medicine, 2021
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Liddle syndrome is a rare hereditary disorder involving increased activity of the epithelial sodium channel (ENaC), which causes the kidneys to excrete potassium but retain too much sodium and water, leading to hypertension. Symptoms are of hypertension, fluid retention, and metabolic alkalosis. Diagnosis is through measurement of...Merck & Co., Inc., 2020
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Liddle syndrome is a rare, inherited condition that is primarily characterized by severe high blood pressure (hypertension) that often develops at an early age. Although the condition may not be associated with signs and symptoms initially, untreated hypertension can eventually lead to heart disease or stroke. Affected people may also...National Center for Advancing Translational Sciences
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