Bartter's syndrome
Bartter's syndrome (pronounced: /ˈbɑːrtərz ˈsɪndroʊm/) is a rare inherited defect in the kidney's ability to reabsorb sodium. Individuals with Bartter's syndrome may have normal blood pressure despite having a high salt concentration in their blood. The syndrome is named after Dr. Frederic Bartter, who, along with his colleagues, first described the condition in 1962.
Etymology
The term "Bartter's syndrome" is derived from the name of Dr. Frederic Bartter, an endocrinologist who first described the condition. The term "syndrome" is derived from the Greek word "σύνδρομον" (syndromon), meaning "concurrence of symptoms," or "running together."
Symptoms
The symptoms of Bartter's syndrome can vary, but they often include polyuria (excessive urination), polydipsia (excessive thirst), hypokalemia (low potassium levels in the blood), alkalosis (an excessively alkaline condition of the body fluids or tissues), and growth retardation. Some individuals may also experience muscle weakness and fatigue.
Diagnosis
Diagnosis of Bartter's syndrome is typically based on the clinical symptoms, as well as laboratory tests that show low levels of potassium and high levels of aldosterone and renin in the blood. Genetic testing can also be used to confirm the diagnosis.
Treatment
Treatment for Bartter's syndrome typically involves managing the symptoms and preventing complications. This may include the use of medications to increase potassium levels and decrease the production of aldosterone and renin.
Related Terms
- Gitelman syndrome: A variant of Bartter's syndrome that is generally less severe.
- Hypokalemic alkalosis: A condition characterized by low potassium levels and an excessively alkaline condition of the body fluids or tissues, which is a common symptom of Bartter's syndrome.
- Loop diuretic: A type of medication that can mimic the symptoms of Bartter's syndrome.
External links
- Medical encyclopedia article on Bartter's syndrome
- Wikipedia's article - Bartter's syndrome
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