Bartter's syndrome
Bartter's syndrome is a rare inherited defect in the thick ascending limb of the Loop of Henle in the kidneys. It is characterized by low potassium levels (hypokalemia), increased blood pH (alkalosis), and normal to low blood pressure. There are two types of Bartter syndrome: neonatal and classic. A subtype of Bartter syndrome is Gitelman syndrome, which is milder and presents later in life.
Etiology[edit | edit source]
Bartter's syndrome is caused by a mutation in one of five genes. These genes encode proteins that are involved in the reabsorption of salt in the kidneys. The mutations result in the loss of function of these proteins, leading to the symptoms of Bartter's syndrome.
Symptoms[edit | edit source]
The symptoms of Bartter's syndrome include polyuria (excessive urination), polydipsia (excessive thirst), growth retardation, and a tendency for the blood to be too alkaline (metabolic alkalosis). The severity of the symptoms can vary, but they usually become apparent in childhood.
Diagnosis[edit | edit source]
The diagnosis of Bartter's syndrome is based on the clinical symptoms, biochemical abnormalities (hypokalemia, metabolic alkalosis, and elevated levels of renin and aldosterone), and genetic testing.
Treatment[edit | edit source]
The treatment of Bartter's syndrome involves the correction of the electrolyte abnormalities and the prevention of kidney damage. This is usually achieved with a combination of medications, including potassium and magnesium supplements, and drugs that reduce the loss of potassium in the urine.
Prognosis[edit | edit source]
The prognosis of Bartter's syndrome is variable. Some patients have a normal life expectancy, while others may develop kidney failure and require dialysis or kidney transplantation.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Bartter's syndrome is a rare disease.
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