Gitelman syndrome

What happens in this disease?

The kidneys take salt from the urine back into the blood. In Gitelman syndrome this work cannot be done fully. Salt is lost in the urine. Along with it, the balance of potassium, magnesium and calcium is also disturbed. Symptoms usually begin in late childhood or the teenage years.

Which symptoms can occur?

Symptoms can differ greatly even within the same family. In most people the course is mild.

• Painful muscle contractions, cramps and muscle weakness (common)
• Dizziness and a craving for salt (common)
• Tingling of the skin, most often on the face (common)
• Extreme tiredness (in some people)
• Low blood pressure (in some people)
• Painful crystal deposits in a joint (in some people)
• A risk of heart rhythm problems (in some people)

How is it diagnosed?

The doctor first rules out more common causes of low potassium. A blood test shows low potassium and magnesium. A urine test shows low calcium and high potassium. A genetic test confirms the diagnosis.

Treatment and care

The disease is lifelong. For now there is no definite cure, but care reduces the symptoms. The aim is to keep the salt balance in the blood. Most people take potassium and magnesium supplements every day. A diet high in salt and rich in potassium may be advised. A kidney specialist follows the person with regular blood tests. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

Gitelman syndrome is passed on through recessive inheritance. Two changed genes are needed to have the disease; one comes from the mother and one from the father. Carrier parents usually have no symptoms. For a carrier couple, the chance of an affected child in each pregnancy is 1 in 4. In marriages between relatives, the chance of two carriers coming together may be higher. Genetic counselling explains the risks to the family.