Liddle's syndrome, also called Liddle syndrome may be a genetic disease inherited in an autosomal dominant manner that's characterized by early, and regularly severe, high vital sign related to low plasma renin activity, alkalosis, low blood potassium, and normal to low levels of aldosterone. Liddle syndrome involves abnormal kidney function, with excess reabsorption of sodium and loss of potassium from the renal tubule, and is treated with a combination of low sodium diet and potassium-sparing diuretics (e.g. amiloride).
Signs and symptoms
Children with Liddle syndrome are frequently asymptomatic. The first indication of the syndrome often is that the incidental finding of hypertension during a routine physical exam. Because this syndrome is rare, it may only be considered by the treating physician after the child's hypertension does not respond to medications for lowering blood pressure.
Adults could present with nonspecific symptoms of low blood potassium, which may include weakness, fatigue, palpitations or muscular weakness (shortness of breath, constipation/abdominal distention or exercise intolerance). Additionally, long-standing hypertension could become symptomatic
This syndrome is caused by dysregulation of the epithelial sodium channel (ENaC) thanks to a mutation at the 16p13-p12 locus. These channels are found on the surface of epithelial cells found in the kidneys, lungs, and sweat glands. The ENaC transports sodium into cells. The mutation changes a website within the channel so it's not degraded correctly by the ubiquitin proteasome system. Specifically, the PY motif within the protein is deleted or altered therefore the E3 ligase (Nedd4) not recognizes the channel. This loss of ability to be degraded leads to high amounts of the channel being chronically present in the collecting duct. This leads to a hyperaldosteronism-like state, since aldosterone is usually liable for creating and inserting these channels.
Evaluation of a toddler with persistent high vital sign usually involves analysis of blood electrolytes and an aldosterone level, also as other tests. In Liddle's disease, the serum sodium is usually elevated, the serum potassium is reduced, and therefore the serum bicarbonate is elevated. These findings also are found in hyperaldosteronism, another rare explanation for hypertension in children. Primary hyperaldosteronism (also referred to as Conn's syndrome), is thanks to an aldosterone-secreting adrenal tumor (adenoma) or adrenal hyperplasia. Aldosterone levels are high in hyperaldosteronism, whereas they're low to normal in Liddle syndrome.
The treatment is with a coffee sodium (low salt) diet and a potassium-sparing diuretic that directly blocks the sodium channel. Potassium-sparing diuretics that are effective for this purpose include amiloride and triamterene; spironolactone isn't effective because it acts by regulating aldosterone and Liddle syndrome doesn't answer this regulation. Amiloride is that the only treatment option that's safe in pregnancy. Medical treatment usually corrects both the hypertension and therefore the hypokalemia, and as a result these patients might not require any potassium replacement therapy.
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