Bartter Syndrome: Treatment, Procedure, Cost and Side Effects

Salt-Losing Tubulopathy with Secondary Hyperaldosteronism is another medically used term for bartter syndrome.

Bartter syndrome is a genetic condition which is rare and affects the kidneys. It is a group of disorders that cause defect in kidney function. These defects cause the kidneys to lose its ability to reabsorb salt before urinating and cause imbalances in various electrolyte and fluid concentrations in the body. The electrolytes affected are primarily mineral salts such as potassium, calcium, magnesium, sodium, and chloride. Due to this syndrome, too much salt and calcium leave our body while urinating. People face several health problems due to these imbalance of essential mineral salts.

There are two major subdivisions of Bartter syndrome- classic Bartter and antenatal Bartter. Antenatal Bartter syndrome is present right from birth. This condition can be very serious, even life threatening. Babies may not show proper grow as they should in the womb, or they may be born too early as premature babies. The other form of Bartter syndrome is called classic. It usually begins in early childhood and is not as severe as the antenatal form. But it can affect growth and cause developmental delays in children.

Symptoms of Bartter syndrome varies from person to person, even for patients with the same condition. Some common symptoms are constipation, frequent urination, excessive salt cravings, severe thirst, muscle weakness and cramping et cetera. Patients affected with Bartter syndrome tend to feel unwell nearly always and show slower than normal growth and development. Antenatal Bartter syndrome which can be diagnosed before birth show signs like failure of the baby's kidneys to work properly and presence of too much fluid in the womb. New born babies who are affected with this form of the syndrome may urinate very often and can have other symptoms like dehydration, vomiting and diarrhoea, very high fevers, deafness at birth. They may also have unusal facial features such as triangle-shaped face, large forehead, large pointed ears and lack of normal growth.

After proper diagnosis, doctors may provide treatment depending on the signs and symptoms. In order to keep a healthy balance of fluids and other important minerals, they may use medications or other supplements. Indomethacin is an anti-inflammatory drug that helps the body to produce less urine can be prescribed in order to retain the salt and calcium in the body and prevent excess draining. Potassium-sparing diuretics, which help to keep potassium stored in the body is another medication used in the treatment of Bartter syndrome. Another drug is the RAAS inhibitors, which help the body from losing potassium. In order to restore the necessary amount of minerals in the body due to loss of them through urine, calcium, , potassium or magnesium supplements or a combination of them may be taken orally. Patients with Bartter syndrome are always advised to consume food which is high in salt, water and potassium. This also helps to maintain balance. In cases of severe forms of this condition, infants are given fluids enriched in these minerals directly into the veins.

Diagnosis of the Bartter syndrome is based upon the types of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Laboratory tests that are recommended to diagnose these disorders include blood tests and urine tests. Blood tests help to determine the serum electrolyte levels, specifically renin, magnesium, and aldosterone levels in the blood and urine tests help to determine the presence of prostaglandin E2 and urine electrolytes, including elevated levels of sodium and potassium.The antenatal Bartter syndrome can be diagnosed before birth (prenatally). Elevated levels of chloride and aldosterone in the amniotic fluid are symptoms of Bartter syndrome in a new barn.Molecular genetic testing can also help to confirm a diagnosis. Molecular genetic testing detects mutations in specific genes which are known to cause the Bartter syndrome.

Treatment of Bartter syndrome depends on the signs and conditions of the disease. Treatment revolves around maintaining the proper balance of fluids and electrolytes in the body. This includes potassium chloride supplementation to help correct electrolyte imbalances. Indomethacin is a non-steroidal anti-inflammatory drug (NSAID) that is used in the treatment of Bartter syndrome. This drug helps to reduce prostaglandin levels in the body of the patients, and thereby helps to reduce excess urine production and the need for potassium supplements. Medications such as potassium-sparing diuretics like spironolactone or amiloride increase the excretion of the amount of water in urine, but retain potassium preventing potassium (hypokalemia). Renin-aldosterone-angiotensin system inhibitors that is RAAS inhibitors help to prevent the secretion of aldosterone from the adrenal glands and also counteract the effects of renin on the kidneys, thereby reducing potassium loss. RAAS inhibitors include aldosterone antagonists, angiotensin II receptor blockers, and angiotensin-converting enzyme (ACE) inhibitors. Growth hormone therapy is another treatment that treats growth retardation and short stature potentially associated with Bartter syndrome. Other supplements which provide calcium magnesium etc. are useful in the treatment of Bartter syndrome and help to maintain the proportion of minerals in the body. For infants born with antenatal Bartter syndrome, medications are injected through the veins.

People, mostly new born and infants, who show greater urge for urinating very frequently and often fall ill with fever, tending to show slower rate of development and growth must be taken to doctors for consultation. Antenatal Bartter syndrome can be diagnosed right from birth and thus, should be treated immediately. Children who show signs and symptoms of Bartter’s syndrome should be taken to a doctor for immediate care and treatment.

Infants and children who show normal signs of growth and development, are healthy and do not feel the need to urinate often are not affected with Bartter’s syndrome. In such cases, children do not need any treatment. Fever and general ill-being may be because of some other causes. Proper diagnosis must be done before treatment and medications are provided.

There are some side effects of the treatment of Bartter syndrome. This is an ever-lasting disease condition and people need to take medicines all throughout their lives. Long term treatment of Bartter syndromes cause adverse effects on the patients. RAAS inhibitors drugs need to be monitored before prescribing because they may lower blood pressure in the patients. Individuals with Bartter syndromes may already have low blood pressure, and these medicines can further potentially impact kidney and cardiovascular function.

There are no separate post treatment guidelines, apart from medications and prescription should be followed by the patients. Patients should never skip their medicines as an irregularity will cause the symptoms of Bartter syndrome to recur. Greater intake of salt rich foods and potassium supplements should be taken. Self care and precaution is important to prevent the recurrence of the signs and symptoms of Bartter syndrome.

Patients with Bartter syndrome can control excessive loss of salt and potassium through the urine by taking medicines and other supplements. But there is no known permanent cure for this disease. People should continue taking the medicines for their entire lives. Thus, there is no estimated time for recovery as medicines are taken throughout. People tend to get better with the loss of symptoms, and for severe cases of this syndrome, people bring the disease under control with continuous medication.

Bartter syndrome treatment can cost in between Rs 600- Rs 10000/-. As the medicines are taken life long, the total cost incurred becomes more.

Although Bartter syndrome can be treated to maintain the proper proportion of salt and other essential minerals in the body, there is no permanent cure to this disease. Patients should thus be on medication for their entire lives. If medicines are stopped, the syndrome will recur again and drain out salt from the body through urine, thus, causing an imbalance in the body’s functioning. Thus, the treatment can not be considered as permanent.