The Bartter syndrome affects the kidney's ability to reabsorb salt, resulting in electrolyte imbalances and fluid loss.
Genetic mutations in the kidneys are primarily responsible for Bartter syndrome, as they affect the functioning of ion channels and transporters. As a result, the renal tubules are unable to reabsorb sodium, potassium, chloride, and other electrolytes normally, resulting in excessive sodium and water excretion. A child with Bartter syndrome must inherit two copies of the defective gene (one from each parent) in order to develop the disorder.
A variety of symptoms can be associated with Bartter syndrome, most commonly presented in infancy or early childhood.
An increased output of urine (polyuria) is a hallmark symptom of Bartter syndrome, which results from the kidneys' inability to reabsorb water.
Polydipsia: Excessive thirst (polydipsia) often accompanies polyuria as the body attempts to compensate for fluid loss.
Bartter syndrome can result in electrolyte imbalances, such as hypokalemia (low potassium levels), hypochloremia (low chloride levels), and metabolic alkalosis (high blood pH).
Poor nutrient absorption and electrolyte imbalances may cause growth failure in children with Bartter syndrome.
People with Bartter syndrome may experience muscle weakness, fatigue, and cramping due to low potassium levels and electrolyte imbalances.
Those with Bartter syndrome may crave salty foods due to chronic salt loss through urine.
Various diagnostic modalities may be used to diagnose Bartter syndrome, including clinical evaluation, laboratory tests, and genetic testing.
A healthcare provider will assess the individual's symptoms, medical history, and family history for signs of Bartter syndrome.
Electrolyte levels, renal function, and urinary electrolyte excretion can be measured using blood and urine tests, which can indicate Bartter syndrome-associated abnormalities.
To confirm the diagnosis and guide treatment decisions, genetic testing can identify specific genetic mutations associated with Bartter syndrome.
The goal of treatment for Bartter syndrome is to correct electrolyte imbalances, manage symptoms, and improve overall health and well-being.
Supplemental electrolyte therapy may be prescribed to restore normal electrolyte levels, particularly potassium and chloride.
In people with Bartter syndrome, nonsteroidal anti-inflammatory drugs (NSAIDs) such as indomethacin can reduce urinary electrolyte excretion and inhibit renal prostaglandin synthesis.
By reducing gastric acid secretion and promoting chloride retention in the kidneys, proton pump inhibitors (PPIs) can help treat metabolic alkalosis.
Individuals with Bartter syndrome may benefit from potassium-sparing diuretics, such as spironolactone or amiloride.
Managing Bartter syndrome and preventing complications such as dehydration, electrolyte imbalances, or acute kidney injury requires regular monitoring of fluid intake, urine output, and electrolyte levels.
Due to its genetic nature, Bartter syndrome cannot be prevented at present. To make informed decisions about family planning, individuals with a family history of the disorder may be able to receive genetic counseling to assess their risk of passing the condition on to future generations.
The Bartter syndrome is characterized by electrolyte imbalances, polyuria, polydipsia, growth failure, and muscle weakness, and is a rare inherited disorder. Individuals with Bartter syndrome can manage their symptoms, maintain electrolyte balance, and improve their quality of life by receiving early diagnosis, appropriate treatment, and supportive care. For affected individuals and their families, genetic counseling may also be beneficial to understand the underlying genetic cause of the disorder and receive guidance regarding family planning and genetic testing.
