OVERVIEW
OVERVIEW
Bartter syndrome, or Bartter syndrome, is characterized by hypokalemic alkalosis, increased plasma renin and aldosterone but normal blood pressure, and hyperplasia and hypertrophy of the paraglomerular apparatus. Early manifestations include polyuria, irritable thirst, constipation, anorexia and vomiting, mostly in children under 5 years of age.
Whether medical insurance
Yes
Department
Nephrology, Pediatrics
Synonyms
Bartter syndrome, Barthel syndrome, heterozygous secondary aldosteronism, secondary aldosteronism, paraglomerular organ proliferation syndrome, paraglomerular cell hyperplasia, tubular alkalosis, congenital hypokalemia, congenital aldosteronism, diffuse paraglomerular cell hyperplasia, Bartter’s syndrome, normotensive aldosteronism syndrome
Clinical symptoms
Polyuria, irritable thirst, constipation, anorexia, vomiting, and muscle weakness.
Hazards
Hyperuricemia, renal calcification, renal stones, intestinal obstruction, developmental disorders, and progressive renal failure may occur in severe cases.
Complications
Hyperuricemia, renal calculus, intestinal obstruction, developmental disorders, vitamin D deficiency disease, etc.
Examination
Serum electrolyte examination, urine electrolyte examination, plasma renin activity measurement, histopathologic examination, X-ray film, ultrasound, electrocardiogram and other examinations.
Diagnosis
According to the symptoms of fatigue, muscle weakness, polyuria, loss of appetite, etc., combined with blood and urine electrolyte examination and renal biopsy, etc., the diagnosis can be made.
Treatment principle
Regulating electrolyte balance, reducing damage to target organs such as heart, brain and kidney, and preserving potassium and diuresis are the principles of treatment.
Curability
The condition can be improved after treatment.
Dietary advice
Drink more salt water, strengthen dietary hygiene and dietary nutrition, develop regular dietary habits, and avoid stimulating foods such as too cold, too hot, and spicy.
Questions you may be concerned about
What is Bartter’s syndrome?
Bart’s syndrome is a group of rare hereditary glomerular diseases. The patients have abnormal sodium chloride reabsorption function in the thick segment of ascending branch of Henle’s collaterals and distal tubules.
1. Clinical symptoms: polydipsia, polyuria, salinophilia, dehydration tendency, recurrent vomiting, constipation, intermittent limb pain, limb weakness, convulsions, palpitations, decreased appetite, growth retardation, mental developmental disorders, etc.
2. Seriousness: Some patients with infantile onset of symptoms are accompanied by mental retardation; adults without active treatment can lead to osteoporosis, and persistent hypokalemia and hypernephrinemia can lead to progressive tubulointerstitial nephritis, which can lead to end-stage renal failure. In the absence of effective treatment, the condition may be fatal in severe cases.
3. Treatment: The treatment of Bart’s syndrome is mainly aimed at controlling symptoms and avoiding serious complications. Potassium supplementation can be prescribed by doctors, such as long-term high-dose oral potassium chloride to correct low blood potassium, and spironolactone, aminopterin and other drugs under the guidance of doctors for treatment.
4. Dietary attention: patients should eat less or spicy and stimulating food, such as chili, onion, mustard, etc., avoid taking greasy and fried food, quit smoking, alcohol, coffee and other excitatory beverages.
This disease is genetically inherited, active prenatal testing may reduce the risk of Bartter syndrome.
Causes
Causes
The disease is caused by mutations in the genes of several key ion pumps in the renal tubules, leading to disorders in the transportation of the corresponding ions.
Symptoms and Diagnosis
Typical Symptoms
The clinical manifestations of this disease are complex and varied, with hypokalemia as the main symptom.1. Fetal Bartter syndrome is characterized by intermittent episodes of polyuria.2. The most common symptom of the childhood form is growth retardation, followed by muscle weakness, and emaciation, polyuria, irritable thirst, etc..3. The most common symptom of the adult form is muscle weakness, followed by fatigue and convulsions, and the less common symptoms include mild paralysis, sensory abnormality of enuresis, nocturnal polydipsia, constipation, nausea, vomiting and even bowel obstruction, salivation, acne, and constipation, Nausea, vomiting and even intestinal obstruction, salt, vinegar or sour pickles, intellectual disability, gout, hypercalciuria, renal calcification progressive renal failure rickets magnesium deficiency, erythrocytosis and so on.
Diagnostic basis
⒈ patients with muscle weakness, growth retardation, polyuria and other symptoms.2. Decreased blood potassium, sodium, chloride, magnesium.3. Increased urinary potassium, chloride.4. Low urine specific gravity, alkalinuria.5. Renal biopsy with glomerular paraglomerular organ hyperplasia, hypertrophy.6. Hyporeactive vascular wall response to endogenous or exogenous angiotensin-II.
Treatment
Treatment guidelines
Symptomatic treatment with electrolyte balance regulators, aldosterone receptor antagonists, and potassium-preserving diuretics may be used.
Drug therapy
Potassium supplementation with long-term high-dose oral potassium chloride to correct hypokalemia, plus spironolactone, aminopterin, and amiloride can correct most symptoms.
Prognosis
The prognosis is good in mild cases, but in severe cases, mental retardation, growth retardation, renal insufficiency and other sequelae may occur.
Nursing care
Daily care
1. Keep the environment quiet and comfortable, reduce the adverse stimulation and psychological pressure on the children. 2. Reasonable arrangement of time, pay attention to the combination of work and rest, avoid excessive tension and exertion. 3. Should do a good job in cleaning the oral cavity, skin mucosa, and prevent secondary infections. 4.
Diet regulation
Strengthen dietary hygiene and dietary nutrition, develop regular dietary habits, and avoid stimulating foods such as too cold, too hot, and spicy foods.