Bartter Syndrome - Types, Causes, Symptoms, Diagnosis, and Treatment

What Is Bartter Syndrome?

Bartter syndrome is a group of similar conditions that affect the kidneys. It is genetic, which means it is inherited and caused by a genetic problem. In Bartter syndrome, too much salt and calcium get out of the body through urination. It can also cause low potassium levels and high levels of acid in the blood. When all of this is not balanced, one can have many different health problems due to these imbalances.

What Are the Types of Bartter Syndrome?

There are two major types of Bartter syndrome.

• Antenatal Bartter Syndrome: Begins before birth. It can be very bad, even life-threatening. Babies may be born prematurely. Antenatal Bartter syndrome can be diagnosed before the baby is born. It can be diagnosed if there are signs that the baby's kidneys are not working properly or there is too much fluid in the uterus.

• Neonatal Bartter Syndrome: In most cases, neonatal Bartter syndrome happens during the twenty-fourth to the thirtieth week of gestation with polyhydramnios (excessive amniotic fluid). Because of this, the infant will have a condition known as polyuria (excessive urination) and polydipsia (excessive consumption of fluids). If the infant does not receive the requisite quantities of fluids, the complications could be life-threatening. Although these symptoms begin in the first two years after birth, they are most likely diagnosed only after the child is of schooling age.

• Classic Bartter Syndrome: Usually begins in childhood and is not as severe as the antenatal form. But it can affect growth and cause delays in development.

• Gitelman Syndrome: This is a mild form of Bartter syndrome. It usually happens later - usually from the age of six until adulthood.

What Are the Symptoms of Bartter Syndrome?

Symptoms can vary from person to person, even in people with a similar condition. Common symptoms that are seen in Bartter syndrome are:

• Constipation.

• Frequent urination.

• Muscle weakness and cramping.

• Salt cravings.

• Extreme thirst (polydipsia).

• Excessive urination (polyuria).

• The general feeling of illness or fatigue (malaise).

• Slower growth and development.

• Periodic paralysis.

Newborn babies with this type of syndrome can urinate more, and they often have:

• Dangerously high fever.

• Dehydration.

• Vomiting and diarrhea.

• Unusual facial features such as the triangular face, large forehead, and large sharp ears.

• Lack of normal growth.

• Deafness.

What Are the Causes of Bartter Syndrome?

The leading cause of Bartter syndrome is a genetic mutation. Genes are the ones that contain instructions to help the body function properly. Genetic diseases can occur when there is an abnormal change in the structure of a gene or its genetic material, the DNA (deoxyribonucleic acid). This change is called a mutation. At least five genes are linked to Bartter's disease, and they all play an essential role in the way the kidneys work - especially in the ability to eat salt. Loss of excess salt as a result of urination (wasting salt) can affect the way the kidneys absorb other substances, including potassium and calcium.

Lack of balance in these elements can lead to severe problems, which are:

• Too little salt can cause dehydration, constipation, and frequent urination.

• Too little calcium can weaken bones and cause frequent kidney stones.

• Low potassium levels in the blood can cause muscle weakness, stiffness, and fatigue.

How to Diagnose Bartter Syndrome?

• Diagnosis of one of Bartter's diseases is based on identifying symptoms, a detailed patient history, a complete clinical examination, and various specialized tests.

• Laboratory tests used to diagnose these problems include blood tests to detect serum electrolyte levels, especially potassium, chloride, bicarbonate, magnesium, renin, and aldosterone levels, and urine tests to detect the presence of prostaglandin E2 and urinary electrolytes, including sodium, chloride. Potassium, calcium, and magnesium.

• Antenatal types of prenatal Bartter syndrome can be diagnosed before birth (prenatal), where polyhydramnios is diagnosed without the presence of related birth defects, and high levels of chloride and aldosterone are found in amniotic fluid.

• Molecular genetic testing may confirm the diagnosis.

• Cell genetic testing can detect specific genetic mutations known to cause Bartter syndrome but is only available as a diagnostic service in specialized laboratories.

What Are the Risk Factors for People With Bartter Syndrome?

Because unknown genetic abnormalities cause the condition, the risk factors for Bartter syndrome are unknown.

How Is Bartter Syndrome Treated?

People with Bartter syndrome will need to take specific medications or supplements for the rest of their lives because there is no cure. The treatment for Bartter syndrome focuses on the specific symptoms that each person experiences. Bartter syndrome treatments need the collaboration efforts of a group of professionals. Pediatricians or general internists, kidney specialists (nephrologists or pediatric nephrologists), and other healthcare providers may be required to organize an impacted child's treatment systematically and completely.

• The primary therapy is to restore the proper balance of fluids and electrolytes in the body. This usually combines sodium and potassium chloride supplementation to help correct electrolyte imbalances. Potassium chloride supplementation is preferred over other potassium salts due to the lack of compatible chloride.

• Some babies with severe, life-threatening loop problems (Bartter syndromes of the uterus) may need a saline replacement.

• Treating high levels of prostaglandin (lipids made at the site of damage or infection) increases the abnormality of polyuria (excessive urination). Electrolyte imbalance occurs when the patient is treated with certain drugs like Indomethacin, Ibuprofen, or Celecoxib.

• With age, Bartter syndrome often becomes easier to manage and control. However, the most challenging time is usually the first year of life. While there are concerns that long-term use of NSAIDs may affect kidney function, these drugs are often reduced or weaned over the years.

• It is essential to have enough salt and water. Affected people often have a strong urge to eat salt because of their thirst for salt and should be encouraged to eat salty foods.

• Affected people may also be encouraged to eat foods high in potassium.

• Cochlear implants can be used to treat deafness associated with Bartter syndrome.

Conclusion:

Though the disease has no permanent cure, with proper supportive treatment and supplementation therapies with comprehensive efforts of various specialists, it is possible to improve the quality and span of life.