Gitelman Syndrome: Treatment, Procedure, Cost and Side Effects

Familial hypokalemia hypomagnesemia

Gitelman syndrome is a very rare genetic disorder in which there isn’t any specific dysfunction in the kidney function. The defect damages the ability of the kidney to re-absorb salt, this in turn causes imbalance of fluid and electrolyte concentrations in the human body. The electrolytes that get affected are generally chloride, sodium, magnesium, calcium and potassium. The severity and symptoms of Gitelman syndrome can vary from person to person and range from moderate to severe. It is usually hereditary and affects members of the same family. Symptoms of this disorder include vomiting, nausea, abdominal pain and other gastrointestinal problems. Some people with this disorder also feel the urge to urinate more frequently and also have polyuria (passing large amounts of urine). Gitelman syndrome is mostly caused due to the mutation of a gene and it is inherited in a recessive autosomal manner.

In Gitelman syndrome, certain tubes within the kidneys is affected, individuals of this disorder also excrete a huge amount of salt from their system and hence the ion channels of the kidneys are affected. Gitelman syndrome has other specific signs such as, hyperaldosteronemia (high levels of aldosterone in the bloodstream), hyperreninemia (high rennin levels in the blood), hypocalciuria (low calcium levels in the urine), hypomagnesemia (low magnesium levels in the blood), metabolic alkalosis (excessive alkaline level in the body) and hypokalemia (low potassium content in the body). There is no cure of Gitelman syndrome, but the symptoms can be controlled by a certain NSAID (Non steroidal anti-inflammatory drug) known as indomethacin. This drug is also used to treat patients with Barter syndrome.

Firstly, diagnosis is done based upon the identification of symptoms, such as specialized tests, clinical evaluation and detailed patient history. Common causes of metabolic acidosis and hypokalemia is usually ruled out. Laboratory tests are also performed to diagnose this condition. These tests include blood tests to determine the level of magnesium, rennin and aldosterone. Urine tests are also conducted to determine the elevated levels of potassium, calcium and sodium. Molecular genetic testing is also a way to diagnose Gitelman syndrome. Genetic testing can easily detect mutation present in certain genes known to cause this condition. However, this facility is only available in specialized laboratories.

Indomethacin is very beneficial in the treatment of Gitelman syndrome. It is also used to relieve pain, joint stiffness and swelling caused due to conditions like tendonitis, bursitis, gout and arthritis. Indomethacin is a type of NSAID which works by obstructing your body’s production of substances which causes inflammation. This helps to decrease the painful symptoms of Gitelman syndrome. It is advisable to consume this medicine only under a doctor’s prescription. Patients with this disorder usually consume this medicine 2 to 3 times a day, it is recommended not to lie down for 10 minutes right after taking this medicine. Stomach upset can occur with this medicine, so it is advisable to take it with an antacid, milk or food. The dosage of this medicine has to be based on the severity of Gitelman syndrome. For children, the dosage however depends on weight. The doctor might put you on a low dosage at first and then gradually increase your dosage as per required.

Since indomethacin is an NSAID, it can be consumed to reduce any kind of pain or swelling caused by any medical condition. Usually people with tendonitis, bursitis, gout and arthritis find it helpful to take this drug. It also reduces inflammation caused due to Gitelman syndrome.

Before consuming indomethacin, it is advisable to tell your healthcare provider if you are allergic to other NSAIDs (like celecoxib, naproxen and ibuprofen) or aspirin. People with asthma, history of strokes, stomach problems, liver diseases, high blood pressure, heart diseases, growth in the nose and blood clothing problems should be careful before taking indomethacin. People who have recurrent kidney problems such refrain from consuming this drug as it may make conditions worse for their kidneys. It is important to drink plenty of water while consuming indomethacin. This medicine can also make you drowsy, therefore after having this drug it is recommended not to engage in any activity which requires alertness.

Indomethacin can cause certain side effects such as dizziness, drowsiness, headache, heartburn and stomach upset. This medicine can also affect your blood pressure and result in increasing your blood pressure. Serious side effects are rare but can occur, these complications include, hearing changes, immense mood swings, unexplained weight gain and edema (swelling of the feet and hands). It is recommended to contact your doctor as soon as these side effects occur. Allergic reaction to this drug is rare but still possible.

It is advisable to take rest after consuming this drug because it can make you extremely drowsy and weak. A proper diet should be maintained while consuming indomethacin so that symptoms of Gitelman syndrome decrease sooner.

This drug doesn’t cure Gitelman syndrome from the root, but only helps to suppress or reduce the symptoms of this condition. Full recovery is not guaranteed, but indomethacin should be consumed as advised by the doctor to ease the pain and inflammation caused by this condition.

The price of the treatment in India is approximately Rs.326 to Rs.1,200.

The results of the treatment is not permanent, it last just as long as you are consuming this drug. Suddenly, quitting the consumption of indomethacin can make the symptoms of this condition return.