Bartter's Syndrome Blood Test

What is Bartter's Syndrome?

Bartter's Syndrome is a rare genetic kidney disorder that prevents proper reabsorption of sodium and chloride, causing electrolyte imbalances and low blood pressure. It is caused by mutations in genes controlling salt transport in the kidney tubules, triggering excessive loss of sodium, chloride, and potassium. The Aldosterone/Plasma Renin Activity Ratio test is the most important test for diagnosis because it reveals the characteristic pattern of high renin with inappropriately low aldosterone levels.

RECOMMENDED TEST Aldosterone/Plasma Renin Activity Ratio, LC/MS/MS
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What causes Bartter's Syndrome?

Bartter's Syndrome is caused by genetic mutations affecting specific proteins in the kidney tubules that control salt reabsorption. These mutations typically occur in genes like SLC12A1, KCNJ1, CLCNKB, BSND, or CASR, which encode proteins responsible for transporting sodium, chloride, and potassium. When these transport proteins don't work properly, the kidneys lose excessive amounts of salt and water, triggering compensatory mechanisms that lead to high renin production, elevated aldosterone, low blood pressure, and chronic electrolyte imbalances. Most cases are inherited in an autosomal recessive pattern, meaning both parents must carry the gene mutation.

What is the best test for Bartter's Syndrome?

The Aldosterone/Plasma Renin Activity Ratio test is the most important blood test for Bartter's Syndrome because it detects the characteristic hormonal pattern of this disorder. People with Bartter's Syndrome typically show extremely high plasma renin activity combined with low or inappropriately normal aldosterone levels, creating a distinctive ratio that helps distinguish it from other kidney disorders. This test measures both hormones simultaneously using advanced LC/MS/MS technology for precise results. Your doctor may also order electrolyte panels to check potassium, sodium, and chloride levels, along with blood pH tests to detect metabolic alkalosis, which commonly occurs with this condition.

When should I get tested for Bartter's Syndrome?

You should get tested if you experience persistent symptoms like muscle weakness, excessive thirst and urination, salt cravings, fatigue, or episodes of muscle cramping and spasms. Testing is especially important for children with growth delays, failure to thrive, or frequent dehydration episodes that don't have an obvious cause. Adults who have unexplained low blood pressure, chronic low potassium levels despite supplementation, or a family history of kidney disorders should also consider testing. Early diagnosis is crucial because untreated Bartter's Syndrome can lead to kidney damage, severe dehydration, and developmental problems in children.

What are the symptoms of Bartter's Syndrome?
Common symptoms include excessive urination and thirst, muscle weakness and cramping, fatigue, salt cravings, and dizziness from low blood pressure. Infants and children may show failure to thrive, delayed growth and development, constipation, and frequent vomiting or dehydration. Many people also experience increased urination at night, kidney stones, and hearing problems in some genetic subtypes. The severity of symptoms varies depending on the specific gene mutation, with some forms appearing in infancy and others not causing noticeable problems until adolescence or adulthood.
Who is at risk for Bartter's Syndrome?
People with a family history of Bartter's Syndrome face the highest risk, as this condition is inherited through autosomal recessive genes, meaning both parents must carry the mutation. Consanguineous marriages (between close relatives) increase the likelihood of inheriting two copies of the defective gene. Certain ethnic populations may have higher carrier rates for specific mutations. Siblings of children diagnosed with Bartter's Syndrome have a 25% chance of also having the condition if both parents are carriers. The disorder affects males and females equally and typically manifests in infancy or early childhood, though milder forms may not be diagnosed until later in life.
What happens if Bartter's Syndrome is left untreated?
Untreated Bartter's Syndrome can lead to chronic kidney damage from persistent electrolyte imbalances and dehydration. Children may experience severe growth retardation, developmental delays, and intellectual disabilities due to chronic electrolyte disturbances affecting brain development. The condition increases risk for kidney stones, nephrocalcinosis (calcium deposits in kidneys), and progressive kidney failure requiring dialysis. Severe cases can cause life-threatening dehydration, dangerous heart rhythm abnormalities from low potassium, and hearing loss in certain genetic subtypes. Early diagnosis and consistent treatment with electrolyte supplementation and medications can prevent most of these complications and allow for relatively normal development and quality of life.
Can Bartter's Syndrome be diagnosed with a blood test?
Yes, blood tests are essential for diagnosing Bartter's Syndrome, though diagnosis requires multiple test results combined with clinical symptoms. The Aldosterone/Plasma Renin Activity Ratio test reveals the characteristic hormonal pattern of high renin with low or normal aldosterone. Blood electrolyte panels show low potassium, low chloride, and elevated bicarbonate levels, while blood gas analysis typically reveals metabolic alkalosis. Blood tests for magnesium and calcium help identify which genetic subtype you may have. While blood tests strongly suggest Bartter's Syndrome, genetic testing provides definitive confirmation by identifying the specific gene mutation, and urine tests help assess the degree of salt and mineral wasting.
How is Bartter's Syndrome treated?
Treatment focuses on replacing lost electrolytes and managing symptoms through lifelong supplementation with potassium chloride and magnesium, often requiring high doses taken multiple times daily. NSAIDs like indomethacin help reduce excessive prostaglandin production in the kidneys, which decreases salt wasting and helps maintain normal electrolyte levels. Potassium-sparing diuretics such as spironolactone or amiloride may be prescribed to reduce potassium loss. ACE inhibitors or angiotensin receptor blockers can help manage the renin-angiotensin system. Many people also need increased salt intake and consistent hydration. Infants may require feeding tubes to ensure adequate nutrition and growth. Regular blood tests monitor electrolyte levels to adjust treatment as needed.
How can I prevent Bartter's Syndrome?
Bartter's Syndrome cannot be prevented because it is an inherited genetic condition present from birth. However, genetic counseling can help families understand their risk if they have a family history of the disorder or are planning to have children. Couples who are known carriers or have had one child with Bartter's Syndrome can pursue prenatal genetic testing or preimplantation genetic diagnosis during IVF to identify affected embryos. For those already diagnosed, preventing complications is possible through consistent treatment adherence, regular monitoring of electrolyte levels, maintaining adequate hydration, and following prescribed supplementation regimens. Early diagnosis through newborn screening or prompt evaluation of symptoms can prevent serious complications and improve long-term outcomes.
What can I do at home for Bartter's Syndrome?
At home, focus on consistently taking all prescribed potassium and magnesium supplements with meals to improve absorption and reduce stomach upset. Increase your salt intake through diet by adding table salt to meals or consuming salty snacks, unless your doctor advises otherwise. Stay well-hydrated by drinking water throughout the day, especially during hot weather or physical activity when fluid losses increase. Keep a symptom diary tracking muscle weakness, cramping, and urination patterns to share with your doctor. Eat potassium-rich foods like bananas, oranges, potatoes, and spinach to supplement your medications. Avoid excessive sweating from intense exercise or saunas that can worsen dehydration. Regular blood pressure monitoring at home helps track treatment effectiveness, and maintaining a consistent medication schedule with pill organizers ensures you don't miss doses.
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Aldosterone/Plasma Renin Activity Ratio, LC/MS/MS
Google reviews 505 reviews
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What's included
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No need to visit a doctor
Private & confidential
No insurance needed
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No extra fees paid at the lab

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