Bartter Syndrome—Adrenal Gland Disorders

The adrenal glands are small glands located on top of each kidney. They produce hormones that you can’t live without, including sex hormones and cortisol. Cortisol helps you respond to stress and has many other important functions.

With adrenal gland disorders, your glands make too much or not enough hormones. In Cushing’s syndrome, there’s too much cortisol, while with Addison’s disease, there is too little. Some people are born unable to make enough cortisol.

Causes of adrenal gland disorders include

• Genetic mutations
• Tumors including pheochromocytomas
• Infections
• A problem in another gland, such as the pituitary, which helps to regulate the adrenal gland
• Certain medicines

Treatment depends on which problem you have. Surgery or medicines can treat many adrenal gland disorders.

NIH: National Institute of Child Health and Human Development

• 17-hydroxycorticosteroids (Medical Encyclopedia)
• 17-OH progesterone (Medical Encyclopedia)
• 24-hour urinary aldosterone excretion rate (Medical Encyclopedia)
• ACTH (cosyntropin) stimulation test (Medical Encyclopedia)
• ACTH blood test (Medical Encyclopedia)
• Acute adrenal crisis (Medical Encyclopedia)
• Adrenal glands (Medical Encyclopedia)
• Adrenalectomy (Medical Encyclopedia)
• Aldosterone blood test (Medical Encyclopedia)
• Congenital adrenal hyperplasia (Medical Encyclopedia)
• Hyperaldosteronism – primary and secondary (Medical Encyclopedia)

Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body.In some cases, Bartter syndrome becomes apparent before birth. The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus (amniotic fluid). Polyhydramnios increases the risk of premature birth.Beginning in infancy, affected individuals often fail to grow and gain weight at the expected rate (failure to thrive). They lose excess amounts of salt (sodium chloride) in their urine, which leads to dehydration, constipation, and increased urine production (polyuria). In addition, large amounts of calcium are lost through the urine (hypercalciuria), which can cause weakening of the bones (osteopenia). Some of the calcium is deposited in the kidneys as they are concentrating urine, leading to hardening of the kidney tissue (nephrocalcinosis). Bartter syndrome is also characterized by low levels of potassium in the blood (hypokalemia), which can result in muscle weakness, cramping, and fatigue. Rarely, affected children develop hearing loss caused by abnormalities in the inner ear (sensorineural deafness).Two major forms of Bartter syndrome are distinguished by their age of onset and severity. One form begins before birth (antenatal) and is often life-threatening. The other form, often called the classical form, begins in early childhood and tends to be less severe. Once the genetic causes of Bartter syndrome were identified, researchers also split the disorder into different types based on the genes involved. Types I, II, and IV have the features of antenatal Bartter syndrome. Because type IV is also associated with hearing loss, it is sometimes called antenatal Bartter syndrome with sensorineural deafness. Type III usually has the features of classical Bartter syndrome.