Gitelman Syndrome

Gitelman Syndrome General Information

Gitelman Syndrome, named after the scientist that discovered it in 1966, Hillel Gitelman, is a rare inherited medical condition that occurs in the distal convoluted tubule belonging to the urinary system, particularly to the kidneys. This medical disorder determines the kidneys to eliminate important amounts of potassium, sodium, chloride and magnesium into the urine. This process should not occur in a normal healthy person because all the substances mentioned above are reabsorbed into the bloodstream. Very often, Gitelman Syndrome is easily confused with Bartter syndrome which is actually another rare inherited medical condition that affects the loop of Henle, more precisely the thick ascending limb. This disorder, Gitelman Syndrome, is seldom linked to some inactivating mutations that occur in the SLCl2A3 gene and results in the function loss of the encoded NCCT or thiazide-sensitive sodium-chloride co-transporter. The protein of the cell membrane has an important role because it participates in the control of ion homeostasis in the distal convoluted tubule, a portion of the nephron (the structural and functioning unit of the kidneys). This syndrome is considered an autosomal-recessive one; it is said that one defective gene has to be inherited from each of the parents. It usually is present at a later age although pediatric cases where reported – patients in the period of the school age. It is also known that this medical disease that affects the urinary system has no predilection for a specific race, as it occurs in people from all over the world. A precise incidence is not known yet.

Gitelman Syndrome Symptoms

All people who suffer from Gitelman Syndrome manifest symptoms very similar, or even identical to those patients who follow therapies with thiazide diuretics. Although rare, this medical condition is considered to be a relatively mild one, causing mainly a symptom known as hypokalemia. The main clinical signs and symptoms that characterize this renal disorder and are accused by the majority of patients are: low levels of sodium and magnesium in blood, hypochloremic metabolic alkalosis, salt wasting, hypocalciuria, reduced levels of blood chlorides, impaired ability to concentrate urine, and hypokalemia. There is another important symptom that it manifests only in some cases, hypomagnesaemia. We can also say about the individuals who suffer from Gitelman Syndrome that they are normotensive. Those persons who carry the syndrome’s linked mutations can be asymptomatic, while others may accuse irritability, muscular cramps that are really mild and generalized weakness, represented by extreme fatigue. The complications are rare if the disease is treated in time, but more severe manifestations were also reported, such as paralysis and tetany. When this type of syndrome affects the adults, they will have a short stature, thickened skin lesions, chronic dermatitis, excessive thirst, tetanic episodes, excessive urination, muscle aches, hypotension, nocturia, dizziness, salt craving or weakness of the muscles. If complications do appear, they are represented by chronic hypokalemia, cardiac arrhythmia (that may lead to sudden death result from the increased imbalance of electrolytes), growth retardation, failure to thrive, and delay of the development and are very common if the syndrome is not treated in time.

Gitelman Syndrome Treatment

Gitelman Syndrome has significant mortality and morbidity rates if is not treated in time with the proper treatment options. But with the help of an efficient therapy, the outlook is very well improved. A prognosis for a long term remains guarded mainly because of the slow progression to chronic failure of the renal system. When dealing with this medical condition or when we talk about diagnosing it, the patient should immediately call his or her health care provider to establish a date for the medical examination. Your health care provider will ask you about the medical family history and then will demand some laboratory tests that will help him or her putting the right diagnosis. The medical professionals can pronounce upon the exact medical disorder that has affected the respective individual after several examinations. If the Gitelman Syndrome attacks a child, then the parents should consider going to pediatric nephrologists to assist with the diagnosis and for a periodic evaluation of outpatient’s growth, renal functions, normal healthy development, responsiveness to the treatment option and serum electrolytes. When a person is suffering from Gitelman Syndrome, the diet that he or she follows is extremely important for the efficiency of the treatment and for the general health status. Because the kidneys pass important amounts of magnesium, potassium, sodium and chlorine into the urine, while normally these substances should be resorbed into the bloodstream, the diet that the patient should consume must be rich in foods and drinks that contain high levels of potassium and other of the substances mentioned before, for example: orange or other citric juice, tomatoes and bananas. It is very important to keep the body well hydrated. So, an individual who suffers from Gitelman Syndrome should take precautions against dehydration.

Although the physical activity of patients who have this medical condition is not restricted, they should stay away from the strenuous exercise. This type of activity puts the person in high danger of dehydration causing several abnormal cardiac functions secondary to the imbalance of the potassium levels in the patient’s organism. The treatment option that is usually administrated to the individual is based on pharmaceutical products. The main category of drugs that represent the principal therapy is based on supplements of potassium. These types of drugs are usually given because the main goal of any therapy that treats Gitelman Syndrome is to correct the hypokalemia. From this category, the most important medicine of choice is potassium chloride prescribed as Kaochlor, Kay Ciel or Cena-K. Another very efficient category of drugs includes the prostaglandin synthetase inhibitors that blunt the overproduction of prostaglandin, responsible for the increased sympathoadrenal activity, pressor resistance to norepinephrine or to angiotensin II (derived from angiotensin I that comes from angiotensinogen, activated by an enzyme), and hyperreninemia. These drugs also contribute to the correction of the hemoconcentration defect by inhibiting the synthesis called PGE2. The most common drugs that belong to this category and are often used are ibuprofen, prescribed as Motrin and indomethacin prescribed as Indocin.