Bartter syndrome
Bartter syndrome
Bartter syndrome (/ˈbɑːrtər/; also known as Potassium-Wasting Diuretic Syndrome) is a rare inherited defect in the thick ascending limb of the loop of Henle. It is characterized by low potassium levels (hypokalemia), increased blood pH (alkalosis), and normal to low blood pressure.
Etymology
The syndrome is named after Dr. Frederic Bartter, who, along with colleagues, first described the condition in 1962.
Signs and Symptoms
People with Bartter syndrome may experience a range of symptoms, including excessive thirst (polydipsia), excessive urination (polyuria), growth retardation, and in some cases, developmental delays. Because the kidneys cannot properly reabsorb sodium and potassium, individuals with Bartter syndrome lose too much of these electrolytes in their urine, leading to the characteristic features of the disorder.
Causes
Bartter syndrome is caused by mutations in several genes, including SLC12A1, KCNJ1, CLCNKB, BSND, and CASR. These genes are involved in the normal function of the kidneys, particularly in the reabsorption of electrolytes.
Diagnosis
Diagnosis of Bartter syndrome is based on the clinical symptoms, biochemical abnormalities in the blood and urine, and genetic testing. The syndrome can be diagnosed at any age, and the severity of symptoms can vary widely.
Treatment
Treatment for Bartter syndrome focuses on maintaining normal growth and development and minimizing the symptoms. This is achieved through a diet rich in potassium and medications that reduce the loss of potassium in the urine.
See Also
References
External links
- Medical encyclopedia article on Bartter syndrome
- Wikipedia's article - Bartter syndrome
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