Gitelman syndrome is an inherited, congenital kidney disease. It is a condition that is usually mild. It does not affect the patient's life expectancy or the functioning of the kidneys. The comfort of life of people with Gitelman syndrome does not differ from the he althy population. For patients, only increased fatigue during everyday activities may be troublesome

Gitelman's syndrome(Latinsyndroma Gitelmani , Gitelman's syndrome; familial hypokalemia-hypomagnesemia) is associated with a genetic disorder that causes abnormal the action of the renal tubules. This, in turn, leads to an excessive loss of potassium, calcium and magnesium, i.e. electrolytes in the urine.

Gitelman's syndrome does not lead to the development of kidney failure, but it causes them to malfunction. This condition is characterized by an excessive loss of electrolytes in the urine, reducing their levels in the blood.

The development of the disease is caused by abnormalities in the fragment of the human genetic material encoding information about one of the electrolyte transporters in the kidneys. This transporter is responsible for the reabsorption of potassium, sodium, magnesium and chlorine from the urine into the blood.

It is estimated to affect 25 people out of a million. However, a genetic defect that may cause disease in future generations is present in approximately 1% of the population.

Gitelman syndrome - inheritance

The disease is hereditary. Therefore, adults who suffer from this condition need to be aware that there is a risk of passing the disease on to their offspring.

If parents have a child diagnosed with Gitelman syndrome, the risk of developing the condition in subsequent children is 25%.

For adult patients who choose to have children, the risk of having a child with Gitelman syndrome is 1 / 400.

Due to the good prognosis of this disease, prenatal tests (confirming the presence of the disease in a child in the womb) are not performed.

Gitelman syndrome is as common in men as it is in women.

Gitelman syndrome - symptoms

The disease is usually asymptomatic. The vast majority of patients are unaware that they are sick. Usually the disease is diagnosed after the age of 6.However, it often happens that the disease does not appear until adulthood.

The symptoms of Gitelman syndrome are not very characteristic. Diagnosis is therefore quite difficult because the symptoms may suggest many other ailments. The symptoms of Gitelman's syndrome are:

  • general weakness and fatigue - mainly dependent on the degree of decrease in blood potassium concentration
  • stomach pains
  • constipation
  • tetany attacks - these are excessive, spontaneous contractions of the muscles of the hands and feet, sometimes painful, mainly caused by a decrease in the concentration of calcium and magnesium in the blood
  • numbness of the facial muscles
  • heart rhythm disturbance - feeling of palpitations, irregular beating
  • short stature - occurs in every third patient
  • pollakiuria, i.e. excessive urination
  • symptoms of chondrocalcinosis, a rheumatic disease resembling gout

Gitelman syndrome - diagnosis

Gitelman syndrome is most often diagnosed by chance. Patients present for tests ordered for other reasons in which abnormal blood electrolytes are found (mainly unexplained low potassium levels).

Gitelman syndrome can only be diagnosed after other, more common causes of electrolyte disturbances have been ruled out.

Electrolyte transporter in the kidneys, the defect of which is the cause of the disease, is also the site of influence of some diuretic drugs (the so-called thiazides). Their abuse may imitate the symptoms of the disease, so often the first step is to exclude excessive consumption of these substances.

In order to properly assess the patient's he alth, the doctor must also order blood tests. If the test results show:

  • low blood potassium (hypokalemia)
  • low blood levels of magnesium (hypomagnesaemia)
  • low blood calcium (hypocalcemia)

a diagnosis can be made - Gitelman syndrome.

Normal blood electrolyte concentration is:

  • Potassium (K) - children 3.2-5.4 mmol / l, adults 135-145 mmol / l
  • Magnesium (Mg) - 0.65-105 mmol / l
  • Calcium (Ca) - total 2.2-2.6 mmol / l, ionized 1.1-1.3 mmol / l

Gitelman syndrome - treatment

Treatment is primarily based on maintaining the correct concentration of potassium, magnesium and chlorine in the blood.

Patients are advised to eat a diet rich in potassium and sodium and to take magnesium supplements (magnesium chloride is recommended). Magnesium itself also alleviates the symptoms of potassium deficiency.

Some patients must take magnesium compounds for the rest of their lives. It rarely serves alonepotassium or drugs preventing its loss (only in the event of a significant decrease in the concentration of this element).

In the event of chondrocalcinosis symptoms, painkillers are additionally administered.

Most asymptomatic patients remain untreated and require medical (mainly nephrological) control about 1-2 times a year. In other cases, the frequency of visits depends on the severity of the symptoms.

It is worth adding here what is meant by a diet rich in potassium. Well, it should contain as much of this element as possible. The greatest amounts of potassium come from the dried seeds of legumes, nuts, dried fruit, cocoa, vegetables (e.g. tomatoes and their preserves, celery, green vegetables) and fruits (e.g. bananas, peaches).

Due to their high intake, potatoes are also a good source of potassium in the diet. Dairy products and pale bread contain lower amounts of this element.

About the authorAnna Jarosz A journalist who has been involved in popularizing he alth education for over 40 years. Winner of many competitions for journalists dealing with medicine and he alth. She received, among others The "Golden OTIS" Trust Award in the "Media and He alth" category, St. Kamil awarded on the occasion of the World Day of the Sick, twice the "Crystal Pen" in the national competition for journalists promoting he alth, and many awards and distinctions in competitions for the "Medical Journalist of the Year" organized by the Polish Association of Journalists for He alth.

Category:

Genetic diseases