Bartter Syndrome

Bartter Syndrome General Information

This syndrome occurs as a defect in the thick ascending limb of the loop of Henle. Bartter Syndrome produces electrolyte abnormalities in the blood as a result of the excessive excretion of electrolytes amounts by the kidneys. The cause of this disease is usually hereditary and is provoked by a gene that is recessive and is a congenital disorder (the condition is present in the human body even before birth). This is why a person with Bartter Syndrome inherits a recessive gene from each parent. The kidneys of the people affected by this disorder excrete, in big quantities, sodium, potassium and chloride. Because the body losses chloride and potassium, the production of urine becomes excessive and the patient could suffer of dehydration, although not a very severe one, even mild, we could say. As a result, the body will produce more aldosterone and renin. This fact will also have important consequences. Once the production of aldosterone has increased, the secretion of acid and potassium in the kidneys will also increase causing a diminution of the potassium found in the blood, leading to the appearance of hypokalemia. The pH of the blood becomes alkaline causing metabolic alkalosis as a result of the loss of acids in the blood. Due to all these affects, we can call Bartter Syndrome potassium wasting for the kidneys inability to reabsorb potassium, characterizing briefly this disorder that refers to a rare series of conditions that attack the kidneys.  What is different in this kidney disease and individualize it from all the others is that the blood pressure does not get high.

Bartter Syndrome Symptoms

Most cases are discovered in adolescence or in early infancy, but can be diagnosed even prenatal. Because is a congenital disease, the symptoms of Bartter Syndrome manifest from the childhood. The symptoms vary in severity from age and depend on how severe is the mutation. The patients who suffer of this disease were usually born prematurely, presenting polyhydramnios. A child with this kidney disorder will always look malnourished and will grow very slowly. Some of them may be mentally retarded and may feel very week because of the lack of muscular resistance, spasm, palpitations, tetany and muscular cramping. These symptoms are specific for patients with hypomagnesaemia or hypocalcaemia. The excessive thirst has as result big quantities of urine that is eliminated very often and constipation. So, the inability of the tubules of the kidney to absorb water or salt makes polyuria to be very common. From this issue results the altered mental status and the dehydration. A chronic dehydration that is mild is the effect of the chloride and sodium loss. In some cases, the patients may suffer from hypotension (a low pressure of the blood that is abnormal). We can say that Bartter Syndrome does not affect a specific race or ethnic group or especially men or women. The most serious cases of this syndrome are characterized by excessive vomiting that can cause volume depletion. Some studies have shown that the patients with this disorder have protruding ears, a triangularly shaped face, and large eyes. In addition, many of them suffered from strabismus, or sensorineural hearing loss.

Bartter Syndrome Treatment

If you suspect that your child is not growing as he should, he complains of muscular cramps or he urinates very frequent, seek your health care provider and establish a close date for an examination. It is very important that Bartter Syndrome is discovered in time to be properly diagnosed. To an exact determination of Bartter Syndrome, you may be advised to accept a biopsy of the kidney because the doctor can better observe if there are any overgrowths of kidney cells. But this result is not found in every patient, except in small children. Detecting this disorder can be done even before the child is born, prenatally, after the first days if life, in the childhood or in adolescence. In small children, the diagnosis is put after a physical examination and after testing for the presence of any abnormalities of electrolytes in the urine and blood. Usually, in a normal healthy organism, the level of potassium from the body is under 2.5 mEq/L. If the results are not as they should be, this would appear if high levels of some hormones, such as aldosterone or renin are detected after the blood tests. But these findings are similar to those belonging to other disorders, especially eating ones, mostly in children, for example: self-induce vomiting, bulimia nervosa or misuse diuretics.

To determine the right diagnosis and to differentiate Bartter Syndrome from other possible diseases is necessary to do urine tests because some of the signs and symptoms listed above can be caused by taking laxatives or diuretics in excess. After finding the exact diagnosis, the health care provider will put you on a treatment that will keep your potassium level from the blood above 3.5 mEq/L, so that you will be put on a strict diet that is rich in products containing potassium. Most patients are advised to include in their daily food liberal amounts of potassium and sodium. They are been given spironolactone that minimizes the loss of potassium. A big number of patients who present muscular spasms or tetany may need magnesium and salt supplies, accompanied by drugs that stop the kidney to eliminate potassium and helps retaining this substance into the body. In some cases (in patients with neonatal Bartter Syndrome), NSAIDs (non-steroidal anti-inflammatories) are administrated to some patients in high doses. Sometimes, ACE) inhibitors (angiotensin-converting enzyme) are given to a class of patients to counteract the effects of aldosterone and ANG II. If the proper treatment is given in time, infants with Bartter Syndrome and with a serious growth failure may grow finally as a normal healthy child do. There could appear some complications during the treatment, because some patients may develop kidney failure, while others remain well all through the therapy. To decrease the excretion of prostaglandin, some specialists give indomethacin to their patients. The short stature, especially in children is treated with a growth hormone, called GH. Hypovolemia (a big volume of blood) is prevented by ensuring water and adequate salt intake to the patient.