Bartter syndrome is a rare genetic disease that causes metabolic alkalosis. This syndrome, which was first defined by Bartter and his colleagues in 1962, is associated with the inability of the kidneys to perform their normal functions. Barter syndrome, which affects the ability of the kidneys to regulate electrolytes such as sodium, potassium, chloride and calcium through urine, leads to serious mineral imbalances in the body. This disease, which usually occurs during childhood, can be managed by early diagnosis and appropriate treatment.
What is Bartter Syndrome?
Bartter syndrome is a genetic disease evaluated by low potassium levels that prevent the healthy functioning of the kidneys and the high pH. Due to this syndrome, important minerals such as potassium, chlorine and sodium in the kidneys cannot be absorbed. This prepares the ground for the deterioration of the electroly balance of the person.
What are the symptoms of Bartter syndrome?
Symptoms of Bartter syndrome vary depending on the type and severity of the disease. However, the basic symptoms of this disease are usually as follows:
- Due to the loss of fluid in the body and electrolyte imbalances, patients may feel the need to urinate more often.
- As a result of loss of potassium, symptoms such as muscle cramps, weakness and weakness may occur as in primary discomfort.
- A continuous feeling of thirst may occur due to electrolyte imbalances and fluid loss in the body.
- In children, growth and developmental retardation can be seen.
- Blood pressure may decrease due to loss of sodium and low fluid levels.
- Bartter syndrome causes a triangular appearance on facial features, a significant forehead structure, large eyes and drooping mouth.
- Metabolic alkalosis occurs in people due to discomfort. This is the condition of the blood becomes extremely alkaline.
- The increase in the renin hormone secreted from the kidneys depending on the level of high plasma renin is observed.
- Oldosterone hormone is excessively secreted due to electrolyte imbalance.
- Constipation, nausea and vomiting may also be among the symptoms of this disease.
All of these symptoms are serious symptoms and one or more are noticed when you are noticed. Regular monitoring of patients with Bartter syndrome and maintaining electrolyte balance plays an important role in increasing the quality of life.
What are the causes of Bartter syndrome?
Bartter syndrome is a genetic disease and leads to electrolyte imbalances in the body. This is due to the deterioration of the function of some proteins in the kidney tubules. In particular, structural disorders that regulate salt absorption in Henle handle are the main causes of syndrome. These genetic mutations prevent the correct absorption of electrolytes, which leads to various health problems. The syndrome can be genetically transferred from family to children.
Genetic mutations
Bartter syndrome usually shows hereditary transition as an autosomal recessive disease. In other words, a gene with this disease should be taken from both parents.
Effects on Kidney Functions
This disease, especially the kidneys of the electrolytes properly affect the absorption function. This leads to high loss of potassium in the body.
A number of drugs
Although Bartter syndrome sometimes develops as a result of some drugs, this is very rare.
How is Bartter Syndrome diagnosed?
Diagnosis of Bartter Syndrome is usually made by clinical evaluation, laboratory tests and genetic analyzes. The basic steps followed in the diagnosis process are as follows:
- First of all, the doctor performs the patient’s physical examination and evaluates the symptoms. Then the patient’s medical history and family story are reviewed. This information plays an important role in directing the diagnostic process.
- Laboratory tests play a critical role in determining the diagnosis. Blood tests are controlled by electrolyte levels, especially potassium levels. Since Bartter syndrome is associated with potassium loss, the results of these tests are very important for the diagnostic process. In addition, kidney functions and urine intensity are evaluated by urine tests of the patient. Tubular functions of the kidneys can also be performed.
- Genetic tests are applied to detect certain gene mutations, taking into account that the disease is based on an hereditary foundation. The detection of a genetic mutation in the test results is an important data for the definitive diagnosis of the syndrome.
In addition, Bartter syndrome may have effects on the heart. Therefore, the patient’s heart rhythm can be examined by electrocardiogram (ECG) test.
As a result of the findings, the diagnosis of Bartter syndrome is finalized and an appropriate treatment plan is created. Early diagnosis and treatment improve the patient’s quality of life and prevent potential complications.
What is Bartter Syndrome Treatment?
Although there is no specific treatment for Bartter syndrome, various methods are applied to manage symptoms and maintain kidney functions. The plan for the treatment of Bartter syndrome is determined depending on the type of disease and the severity of symptoms.
Electrolyte and fluid support
Patients usually have low potassium, sodium and magnesium levels. Therefore, electrolyte supplements are recommended to relieve deficiencies. In addition, adequate fluid intake is important because there is loss of fluid due to excessive urine production.
Drug therapy
NSAIDs and aldosterone antagonists, which reduce prostaglandin synthesis, can help prevent loss of potassium and balance blood pressure. If the doctor deems appropriate, diuretic and antihypertensive drugs may also be added to the treatment.
Diet
Balancing salt intake supports the better functioning of the kidneys. Although low -salt diet is generally recommended, high sodium diet may be preferred in some patients. It is determined by the doctor according to the patient’s condition.
Measures Supporting Kidney Functions
Since there is a risk of renal failure in the later stages of the disease, treatment plans to protect kidney health can be applied.
If Bartter syndrome is not diagnosed and controlled early, it may cause serious complications such as renal failure, growth retardation, heart rhythm disorders and bone weakness. Therefore, regular physician tracking is of great importance.
Frequently asked questions about Bartter syndrome
What are Bartter Syndrome Types?
Bartter syndrome types are handled in 3 main headings. These types vary depending on how severe the disease is and which genetic mutation is effective. The most common form of classic Bartter syndrome is often evident in her age with children. Antennatal Bartter Syndrome begins to show symptoms during pregnancy and may cause serious health problems. The developing form of the disease, which may occur in later ages, shows lighter symptoms.
What are the effects of Bartter syndrome on children?
Bartter syndrome can lead to growth and developmental retardation in children. This situation, which causes self -esteem cannot develop, can be a trigger for imposition syndrome in the future. Due to the loss of fluid, their frequent dehydration increases the frequency of application to the hospital. In addition, low energy levels limit children’s daily activities.
Who is Barter Syndrome seen?
Because it is a genetic disease, Barter syndrome, which is hereditary, is more common in infants and children. The disease of both parents may cause the child to develop this syndrome. In rare cases, it may occur during adulthood, such as Rotator Cuff syndrome, an advanced age problem.
Bartter syndrome is corrupted in which channel?
Bartter syndrome develops due to disorders in the tubules of the kidneys, especially in sodium-potassium pumps. This prevents the kidneys from absorbing electrolytes properly, which disrupts the balance of many systems in the body, causing symptoms.
