Bartter Syndrome

Posted Thursday, June 23, 2016

Did You Know? Bartter Syndrome is an inherited condition

A Rare Genetic Renal Condition 

Bartter Syndrome Affects 1 in 1,000,000

Bartter syndrome is a group of rare conditions that affect the kidneys. There are five gene defects known to be associated with Bartter syndrome. The condition is caused by a defect in the kidneys' ability to reabsorb sodium. Those affected by Bartter syndrome lose too much sodium through the urine. This causes a rise in the level of the hormone aldosterone and makes the kidneys remove too much potassium from the body. Also, the condition results in abnormal acid balance in the blood, which causes too much calcium in the urine. 

This resource will provide education on the symptoms, complications and treatment options for Bartter Syndrome.   

01 | Symptoms

Patients may have symptoms in the first two years of life, but they are usually diagnosed at school age or later. In addition to dehydration, common symptoms include:

  • Fatigue
  • Polyuria (Increased urination)
  • Polydipsia (Increased Thirst)
  • Nocturia (Waking up at night to urinate)
  • Generalized weakness
  • Salt Cravings
  • Mental confusion
  • Vomiting
  • Muscle spasms
  • Tetany
  • Failure to thrive
  • Short stature (If untreated)
  • Constipation
  • Low blood pressure
  • Kidney stone(s)
  • Muscle cramping and weakness

02 | Complications

In addition to secondary conditions resulting from Bartter Syndrome symptoms, kidney failure is a possible complication.   

03 | Treatment Options

There is no cure for Bartter Syndrome. Common treatment options consist of supplements to replace what is lost and medications to prevent urinary wasting of potassium and magnesium. In younger children growth hormone may be used to prevent the short stature and anti-inflammatory agents to decrease the elevated inflammatory levels. Common medications and supplements used to treat Bartter Syndrome include:

  • Potassium Chloride Supplements
  • Magnesium Supplements
  • Diuretics
  • Anti-Inflammatory Medications
  • ACE Inhibitors
  • Growth Hormones

Although, Bartter Syndrome is a rare condition, there are numerous resources and support groups. For more information on Bartter Syndrome visit: http://rarediseases.org/rare-diseases/bartters-syndrome/ 

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References

https://www.nlm.nih.gov/medlineplus/ency/article/000308.htm 

http://www.nytimes.com/health/guides/disease/bartter-syndrome/overview.html 

http://barttersite.org/what-is-bartters-syndrome/

 


 

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