OVERVIEW
OVERVIEW
Liddell syndrome, also known as pseudoaldosteronism, is a renal tubular disease characterized by severe hypertension, hypokalemia, metabolic alkalosis, and hyponephrinemia without aldosteronism, and is a systemic hereditary sodium transport abnormality disorder with autosomal dominant inheritance. The main manifestations are hypertension, hypokalemia and alkalosis. The disease has no possibility of self-healing, and requires active and correct treatment of hypertension and chronic hypokalemia to prevent complications.
Whether medical insurance
Yes, it is
Department
Cardiovascular Medicine, Nephrology
Synonyms
Pseudoaldosteronism, renal sodium retention syndrome, congenital tubular hyperkalemia, hyponephrinemic hypertension syndrome, pseudohypercortisolism
Clinical symptoms
Headache due to hypertension, muscle weakness and flaccid paralysis due to low potassium, polyuria, thirst, convulsions, sensory abnormalities, retinopathy.
Harmful effects
It may affect multiple organs, resulting in impaired cardiac, renal and visual functions.
Complications
Hypokalemia, metabolic alkalosis and complications associated with increased blood pressure.
Tests
Blood routine, electrolytes, renal function test, blood potassium test, blood sodium test, urine sodium test, adrenal ultrasound, CT, magnetic resonance examination, etc.
Diagnosis
The manifestation of hypertension, hypokalemia and alkalosis can be diagnosed by combining with blood potassium, blood aldosterone, urinary 17-hydroxysteroid, 17-ketosteroid and adrenocorticotropic hormone excitation test.
Treatment principle
Limit sodium intake, supplement potassium salt appropriately, inhibit ion transport in distal tubules to increase sodium excretion and decrease potassium excretion, correct electrolyte disorders, and lower blood pressure.
Curability
The disease has no possibility of self-healing and requires active and correct treatment of hypertension and chronic hypokalemia to prevent complications.
Dietary recommendations
Eat a high-calorie, high-protein, vitamin-rich, light, easy-to-digest diet, low-salt diet, avoid tobacco, alcohol, coffee, strong tea, etc.
Etiology
Causes
Autosomal dominant disease, resulting in increased sodium reabsorption in the glomerular collecting ducts and increased K+ and H+ excretion, leading to systemic hereditary sodium transport abnormality.
Symptoms and diagnosis
Typical symptoms
The main manifestations are hypertension, hypokalemia and alkalosis.1. Hypertension
Hypertension is the earliest and most common symptom, which occurs more often in adolescents and is more serious, and patients often come to the clinic with this symptom.
2. Hypokalemia
Hypokalemia is manifested as muscle weakness, periodic paralysis, twitching of hands and feet, and even rhabdomyolysis (accompanied by elevated plasma creatine phosphokinase), sensory abnormality, polyuria, irritable thirst.3. ComplicationsPatients may suffer from various cardiovascular and cerebrovascular complications due to hypertension, as well as hypokalemia and neurological complications caused by electrolyte disorders, which may be manifested as headache, muscle weakness and flaccid paralysis, polyuria, irritable thirst, twitching, sensory abnormality, retinopathy.
Diagnostic basis
1. There is often a family history of this disease. 2. The main manifestations are hypertension, hypokalemia and alkalosis, but the aldosterone level in blood and urine is not high. 3. Urinary 17-hydroxysteroid, 17-ketosteroid and adrenocorticotropic hormone excitability test are normal, and the treatment of spironolactone is ineffective. 4. Combined with the results of electrolytes, renal function and other auxiliary examinations, and exclude other potassium-losing nephropathies, it is possible to make the diagnosis.
Treatment
Treatment guidelines
Limit sodium intake, supplement potassium salt appropriately, inhibit ion transport in distal tubule, increase sodium excretion and decrease potassium excretion, correct electrolyte disorders, and reduce blood pressure.
Drug therapy
Potassium-preserving diuretics amphotericin and amiloride have good efficacy, which can directly inhibit ENaC of distal convoluted tubule and luminal membrane of collecting duct and inhibit Na+ reabsorption, so that the urinary sodium will increase and the urinary potassium will decrease. Strict salt restriction or moderate salt restriction plus potassium-preserving diuretics can normalize blood pressure and restore plasma renin and aldosterone levels. Thiazide diuretics are also effective in treating pseudoaldosteronism, but require large potassium chloride supplementation; alternatively, sodium intake can be restricted and thiazide diuretics, aminopterin, or amiloride can be administered.
Frequent monitoring of blood pressure and potassium is required during treatment, and the treatment regimen is adjusted accordingly; if blood pressure is elevated, diuretic dosage is increased or sodium intake is further restricted. If blood potassium levels are low, potassium chloride is to be supplemented and the dosage of aminopterin or amiloride is to be increased. Potassium chloride and not potassium bicarbonate should be used, as the disease itself is alkalized and alkaline potassium salts should not be used. The hydrocorticoid receptor antagonist spironolactone is ineffective due to low plasma renin and aldosterone levels and can lead to hyponatremia with prolonged application.
Prognosis.
There is no possibility of self-healing, but pharmacologic therapy relieves symptoms and improves quality of life, but hypoaldosteronism can persist.
Nursing care
Daily care
1. Pay attention to personal hygiene and prevent upper respiratory tract infections. 2. Take medication as prescribed by the doctor, and review the blood regularly.
Dietary management
1. Eat a high-calorie, high-protein, vitamin-rich, light, easy-to-digest diet. 2. Limit sodium intake and eat potassium-rich foods. 3. Diets containing moderate amounts of dietary fiber can help to maintain smooth defecation. 4. Avoid tobacco, alcohol, coffee, strong tea, etc.