Barter disease, also known as Barter syndrome or Barter's syndrome, is a rare genetic disorder characterized by abnormal kidney function that leads to electrolyte imbalances in the body. This condition is named after the British physician, William Barter, who first described it in 1962.
In individuals affected by Barter disease, there is a defect in the reabsorption of salt and water in the kidneys' tubules. This impaired reabsorption primarily occurs in the loop of Henle, a part of the kidney responsible for maintaining the body's fluid and electrolyte balance. As a result, affected individuals experience excessive loss of sodium, chloride, potassium, and water through their urine.
Common symptoms of Barter disease include excessive thirst, dehydration, muscle weakness, fatigue, growth retardation (particularly in children), and a tendency for low blood pressure. Additionally, electrolyte disturbances can lead to abnormally high levels of calcium in the urine, potentially causing the development of kidney stones.
Diagnosis of Barter disease involves clinical evaluation, blood and urine tests, and genetic testing. Treatment typically focuses on managing the associated symptoms and complications, including the correction of electrolyte imbalances through dietary management and supplementation.
Barter disease is an autosomal recessive disorder, meaning that both parents must carry a copy of the defective gene for their child to be affected. Genetic counseling and carrier testing are recommended for individuals with a family history of the condition to assess the risk of passing on the disease.
