A Guide to Gitelman Syndrome
Read on to learn more about Gitelman syndrome, including its causes, symptoms, and treatments.
Gitelman syndrome is a rare genetic condition that affects an estimated 25 in 1 million individuals. It impairs the kidneys’ ability to reabsorb salt and affects how electrolytes are processed. These electrolytes include:
Normally, an area of the kidney called the distal convoluted tubule reabsorbs these electrolytes. This prevents them from leaving the body too quickly.
In Gitelman syndrome, electrolytes leave the body rather than being reclaimed in the distal convoluted tubule. Low electrolyte levels can cause serious or even life-threatening symptoms, including seizures and atypical heart rhythms.
Learn more about electrolyte imbalances.
Gitelman syndrome is caused by a genetic mutation that affects kidney function.
The most commonly affected gene in Gitelman syndrome is called SLC12A3. This gene provides instructions for a protein that moves electrolytes across cell membranes in the kidneys. When this protein is defective, the electrolytes leave the body instead of being reabsorbed.
Gitelman syndrome inheritance occurs through an autosomal recessive inheritance pattern. This is when two parents, who are both carriers of an affected gene, each pass one copy of that gene to their child. If only one copy is inherited, the child will become a carrier without having the disease.
The word “recessive” means that for the gene to be expressed, the person must have two affected genes. “Autosomal” means the gene is not on one of the sex chromosomes.
Some people with Gitelman syndrome have no symptoms and may never know they have the condition. For this reason, the true prevalence of Gitelman syndrome is likely underreported.
People who have symptoms often develop them late in childhood or as young adults. Rarely, babies and small children may show symptoms. Symptoms typically vary between individuals, and misdiagnosis is common because Gitelman syndrome is so rare.
Symptoms can range from very mild to life-threatening. These may include:
- dizziness or fainting due to low blood pressure
- muscle spasms or cramping in the hands, feet, arms, legs, or face
- abdominal symptoms, such as:
- nausea or vomiting
- numbness or tingling in the face or hands
- seizures, although this is rare
- excessive thirst
- excessive urination, especially at night
- cravings for salty foods
- heart arrhythmias or palpitations
- rhabdomyolysis, or the breakdown of muscle tissue that releases toxins into the body
- joint pain due to calcium deposits in the joints
To diagnose Gitelman syndrome, your doctor will take a detailed medical history and perform a physical examination. Depending on your vital signs and other factors, they may order the following tests:
- blood testing for:
- electrolyte levels
- renin and aldosterone
- urine testing for sodium and chloride
- kidney ultrasound
- genetic testing
Genetic testing can pinpoint a specific mutation if one exists. However, this is only available on a limited basis through specialized laboratories.
Some people with Gitelman syndrome have been misdiagnosed as having eating disorders. Measuring the chloride level in your urine may help differentiate between the two.
Treating Gitelman syndrome typically involves:
- correcting electrolyte imbalances
- ongoing monitoring of electrolyte levels
- managing side effects caused by taking potassium and magnesium supplements
The goal of treatment is to manage symptoms, as restoring normal blood levels of electrolytes may not be possible.
Potassium chloride is the best potassium supplement for correcting low blood potassium levels. This medication may cause gastrointestinal side effects, including:
- ulcers in the GI tract
- perforation of the stomach or bowel
If gastrointestinal symptoms occur, your doctor may prescribe intravenous potassium chloride instead. You should avoid taking potassium chloride supplements on an empty stomach.
You may also need magnesium supplements. Magnesium chloride is generally the best-tolerated magnesium supplement. Other sources of magnesium, such as magnesium oxide, may cause diarrhea. You may require lifelong magnesium supplementation.
Learn more about the benefits and side effects of magnesium supplements.
It is important to take your medications exactly as prescribed and keep all appointments for laboratory monitoring. Tell your doctor about all medications and supplements you are taking.
Your doctor may also recommend a diet that is high in potassium, sodium, and magnesium. High potassium foods include:
- dried fruit such as raisins and prunes
- beans and lentils
- oranges and orange juice
- spinach and broccoli
- acorn squash
Learn more about 15 foods that are high in potassium.
You can also add the following foods to increase your dietary magnesium intake:
- peanuts and peanut butter
- brown rice
- soy milk
- almonds and cashews
Occasionally, doctors may add other medications to your treatment plan. Diuretics that help your body retain potassium may help raise potassium levels. Indomethacin, a nonsteroidal drug often prescribed for gout, may help with growth deficiency occurring in early childhood.
There is no cure for Gitelman syndrome, but the symptoms are manageable for many people. Monitoring electrolyte levels and taking medications exactly as directed may improve your quality of life.
For some people, excessive fatigue may impact their ability to carry out daily tasks.
Because electrolyte imbalances can affect multiple body systems, complications of Gitelman syndrome may occur.
People with stomach or intestinal illnesses can experience rapid dehydration. This may require IV electrolytes and fluids, which are administered through a vein.
Severe electrolyte imbalances can also cause heart arrhythmias and seizures. If you develop either of these conditions, contact your physician immediately.
It is important to keep all appointments for lab work as scheduled. You may need lifelong monitoring.
Bartter syndrome is a genetic condition very similar to Gitelman syndrome. Gitelman syndrome is sometimes referred to as a subtype of Bartter syndrome. However, Bartter syndrome is generally more severe and may begin earlier in life.
According to experts, muscle cramps and spasms may be more common in people with Gitelman syndrome. In addition, Bartter syndrome is not associated with magnesium loss. Urinary calcium levels in Bartter syndrome are also typically high rather than low.
Learn more about Bartter syndrome.
Gitelman syndrome is a genetic condition that affects salt and electrolyte reabsorption in the kidneys. People with Gitelman syndrome may have a variety of symptoms or no symptoms at all. This can depend on the severity of the condition.
Most people with Gitelman syndrome will need some degree of monitoring to check their electrolyte levels throughout their lives. They are also at risk for complications resulting from low electrolyte levels.
Talk with your doctor about ways to manage symptoms caused by Gitelman syndrome.