Familiarity with Bartter syndrome; A rare kidney complication that young and old don’t know

Bartter syndrome is a rare genetic disorder that was first mentioned in the 1960s by a doctor named Frederic Bartter. According to Barter's syndrome, certain disorders occur in the kidney in order to absorb and excrete minerals in the patient's body, which may endanger the patient's life even if there is no treatment. The chance of contracting this disease is almost the same between men and women, and it is estimated that one out of every hundred thousand people in a population suffers from these kidney disorders. However, because the symptoms of Bartter syndrome are so broad, it can be extremely difficult to identify this syndrome without genetic testing. Used. Of course, some researchers have classified this category of kidney abnormalities based on appearance and clinical characteristics, while others have classified complications based on gene mutations. With all these interpretations, it was finally decided to permanently introduce Bartter syndrome for certain disorders of renal tubulopathy. The meaning of tubulopathy is that there are certain small tubes inside the kidney tissue that are affected by genetic mutation and cause a salt absorption disorder. However, the mechanism of Bartter syndrome is more complicated than these words.

BingMag.com Familiarity with Bartter syndrome; A rare kidney complication that young and old don’t know

Bartter syndrome is a rare genetic disorder that was first mentioned in the 1960s by a doctor named Frederic Bartter. According to Barter's syndrome, certain disorders occur in the kidney in order to absorb and excrete minerals in the patient's body, which may endanger the patient's life even if there is no treatment. The chance of contracting this disease is almost the same between men and women, and it is estimated that one out of every hundred thousand people in a population suffers from these kidney disorders. However, because the symptoms of Bartter syndrome are so broad, it can be extremely difficult to identify this syndrome without genetic testing. Used. Of course, some researchers have classified this category of kidney abnormalities based on appearance and clinical characteristics, while others have classified complications based on gene mutations. With all these interpretations, it was finally decided to permanently introduce Bartter syndrome for certain disorders of renal tubulopathy. The meaning of tubulopathy is that there are certain small tubes inside the kidney tissue that are affected by genetic mutation and cause a salt absorption disorder. However, the mechanism of Bartter syndrome is more complicated than these words.

As mentioned, there is a series of small tubes in the kidney tissue that should do the job of salt processing. In Bartter's syndrome, these tubes cause the balance of electrolytes and body fluids to be disrupted by excessive secretion and absorption of the main minerals; Because the ion channels in the tubes are disturbed and different minerals are not secreted properly from the tubes. Although it is possible to consider subgroups for Bartter syndrome based on the type of genetic mutation, some symptoms are similar in different types of Bartter syndrome. occur For this reason, Bartter's syndrome can also occur at this time. Sometimes it is possible that this category of abnormalities is also known as hyperprostaglandin E syndrome because kidney disorders are related to the increase in the level of factors called prostaglandin; Molecules that are very briefly involved in molecular messaging in the body. There is also a type of Bartter's syndrome known as the classic type, which is beyond the scope of this article. Therefore, in terms of the range of signs and symptoms, Bartter's syndrome is one of the rare diseases that involve a wide range of kidney genes. The type of genetic mutation is divided into six types. Although some symptoms of the disease are clearly seen in most types, there are certain disorders that are found in only one type of disorder. The six types of Bartter syndrome are as follows:

  • Type 1: SLC12A1 gene disorder
  • Type 2: KCNJ1 gene disorder
  • Type 3: CLCNKB gene disorder
  • Type A4: BSND gene disorder
  • B4 type: CLCNKA and CLCNKB gene disorder
  • Type 5: MAGED2 gene disorder
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All the mentioned genes are related to absorption and secretion of salt. In fact, Bartter's syndrome occurs when the body's balance in the absorption and excretion of minerals in the kidney is disturbed. Out of balance of such a very important process causes different and specific symptoms. For example, if the salt level in the body is extremely low, dehydration (dehydration), constipation and frequent urination occur. If the body suffers from calcium deficiency, the bones gradually weaken and kidney stones are formed. On the other hand, if the level of potassium in the blood drops drastically, muscle weakness, spasms, bruises and a feeling of fatigue are induced to the patient. Therefore, Bartter's syndrome is considered an extremely challenging disease in terms of involving the body in various symptoms.

Symptoms and symptoms of Bartter's syndrome

BingMag.com Familiarity with Bartter syndrome; A rare kidney complication that young and old don’t know

As mentioned before, the symptoms are extremely diverse and can be different in each person. However, some common symptoms in patients are as follows:

  • Constipation
  • Frequent urination
  • Feeling unwell
  • Weakness and muscle cramps
  • Strong desire to consume salt
  • Acute thirst
  • Growth and development at a slower rate than usual

Signs and symptoms of Bartter's syndrome in babies are somewhat different from adults. However, it should be noted that this disease is extremely rare in babies, but if the fetus's kidneys do not work properly in the mother's womb or a lot of fluid accumulates in the kidney, it is not bad to suspect Bartter's syndrome. Babies born with this disorder urinate far more than healthy babies at birth. However, the following symptoms are also common in babies:

  • Very high and dangerous fever
  • Dehydration
  • diarrhea and vomiting
  • some parts of the face are abnormal; For example, triangular face, very high forehead, excessively long ears
  • The growth of babies is not normal
  • Deafness at birth

Diagnosis of Bartter syndrome

A simple and common method for diagnosing Bartter syndrome is to collect information from the symptoms and signs that the patient expresses orally during the visit to the doctor. However, the physician's conclusion in this way may not be correct in the first place. For this purpose, laboratory approaches are needed to identify and understand kidney disorders.

Part of the laboratory tests to identify Bartter's syndrome include blood tests to measure serum electrolyte levels, potassium, chloride, bicarbonate, and magnesium. These tests are also used to measure the level of renin and aldosterone hormones. Urine tests are also used to diagnose this syndrome to measure the amount of prostaglandin E2, urea electrolytes including sodium, chloride, potassium, calcium and magnesium.

To identify Bartter syndrome in fetal time, the most obvious sign of polyhydroamnion. It is caused by the accumulation of amniotic fluid in the body of the fetus. Of course, Bartter's syndrome should be suspected when no other complications or congenital disorders appear when the phenomenon of polyhydroamnion is seen. Usually, the level of chloride and aldosterone hormone in the amniotic fluid is high in the fetus with Bartter syndrome. Also, molecular genetic tests can confirm Bartter's syndrome. Based on genetic tests, genetic mutations that cause Bartter syndrome can be easily found. However, such tests are extremely expensive and can only be performed in advanced laboratories.

Is there a cure for Bartter syndrome?

BingMag.com Familiarity with Bartter syndrome; A rare kidney complication that young and old don’t know

Bartter syndrome, which is one of the rarest diseases in the international level, has specific symptoms for each of which a specific strategy can be presented for treatment. Treatment may require the efforts of a medical team and not just one physician. For example, for the treatment of babies, both the pediatrician and the kidney disease doctor should work together to determine the best approach for treatment. Unfortunately, at the time of writing this article, there is still no definitive treatment for Bartter syndrome. has not been For this reason, the only approach to prevent the progression of the disease is to prescribe supplements and specific drugs to manage the disorders. If the attending physician can adopt a treatment that establishes the proper balance and balance between fluids and electrolytes in the body, Bartter's syndrome will not worsen. For this purpose, potassium chloride and sodium supplements are usually prescribed to correct the imbalance between electrolytes. Usually, potassium chloride supplements are better than other types of potassium supplements; This is because it will also solve the abnormalities related to chloride. However, in infants, the treatment situation is significantly different and requires more precise treatment approaches; Because babies' lives may be in danger.

Since severe abnormalities during fetal development can cause disruptions in the baby's growth and development, it is necessary to restore balance in the body as soon as possible. For this reason, they usually use intravenous injection to replace water and salt. Since the increase in prostaglandin levels worsens the phenomenon of polyuria (meaning frequent urination) and other electrolyte abnormalities, treatment usually requires chemical drugs such as indomethacin, ibuprofen, and celecoxib that reduce the production of this substance. This class of drugs is also known as non-steroidal anti-inflammatory drugs (NSAIDs).

BingMag.com Familiarity with Bartter syndrome; A rare kidney complication that young and old don’t know

Based on various studies, indomethacin usually has a better effect than other drugs for the treatment of Bartter's syndrome, but this drug can also cause acute side effects. For example, it is possible for the digestive system of the human body to have a perforation, especially in the stomach. For this reason, to prevent such a fatal complication, doctors usually prescribe another drug as a stomach acid blocker to significantly reduce the risk of experiencing negative complications. However, this drug also has other side effects that create new problems.

It is interesting to know that increasing age can make it much easier for the doctor to manage and control Bartter syndrome. In fact, the most difficult and challenging time for treatment is the first years of life

It is interesting to know that increasing age can make it much easier for the doctor to manage and control Bartter syndrome. In fact, the most difficult and challenging time for treatment is the first years of life. In the meantime, there is also a concern about the side effects of NSAID drugs in the long term; Because kidney function will undergo significant changes under the influence of NSAID drugs. In some patients, the sodium level is almost adequate and they suffer more from potassium deficiency. The secretion of sodium into urea increases, and on the other hand, potassium remains on the surface of the body and is not easily excreted. In this case, the problem of potassium in the body can be solved. However, on the other hand, it is possible that the body suffers from sodium deficiency and blood pressure drops easily. For this reason, in this treatment method, sodium chloride supplements will also be prescribed so that the body does not experience a sudden drop in pressure and in the worst case scenario, the patient does not faint due to low blood pressure.

Treatment methods to prevent The symptoms of Bartter's syndrome are becoming more and more sophisticated. For example, chemical drugs are made to block the renin-aldosterone-angiotensin pathway. These drugs are also prescribed to the patient in combination with other drugs to establish balance between fluids and electrolytes. Also, the release of aldosterone hormone will be prevented in most of the treatment processes so that the amount of potassium is at a constant level. To prevent unexpected events, it is better to constantly check the patient's condition; Because the drop in blood pressure can lead to other symptoms such as diarrhea and vomiting.

However, the problem of potassium level in Bartter syndrome type 3 is not very noticeable and by prescribing a magnesium supplement, cramps and muscle spasms can be prevented. treated This point is also obvious in the field of Barter syndrome treatment, that the patient should consume enough water and liquids in a day and night. Dehydration will definitely worsen the symptoms.

Gitelman syndrome; Another controversial type of Bartter's syndrome

BingMag.com Familiarity with Bartter syndrome; A rare kidney complication that young and old don’t know

Gitelman Syndrome (Gitelman Syndrome) until long ago under the name of another Varieties of Bartter syndrome were known. However, this level of disorder is so advanced that it has far-reaching effects on the body. For this reason, Gittleman syndrome is usually considered a separate disease that depends on genes in the body. The basis of the Gitelman syndrome disease mechanism is based on the same basis as the causes of Bartter syndrome; It means an imbalance between electrolytes and body fluids. However, in Gittleman syndrome, there will definitely be a decrease in potassium and magnesium levels. Also, the secretion of calcium into the urea decreases and the blood pH increases.

Diagnosis and treatment of Gittleman syndrome is almost similar to Bartter syndrome; The only difference is that heart complications are more likely to appear in the patient than Bartter's syndrome. For this reason, it is necessary to constantly evaluate and measure the factors related to the heart. Also, the treating physician in Gitelman syndrome cannot prescribe any drug model; Because as mentioned, the risk of heart attack is extremely high in this category of patients. Thanks to the efforts of Hillel Jonathan Gittleman, a German doctor and scientist who, together with his colleagues, was able to identify the gene causing this syndrome (SLC12A3), this kidney disorder was named Gittleman syndrome.

Barter syndrome; A complication that may be useful for the treatment of corona disease

In one of the latest articles published recently in the field of medical sciences, a group of Italian researchers conducted a study to find a connection between Bartter's syndrome and the treatment of corona. Angiotensin-converting enzyme type 2 (ACE2) is a regulatory pathway for the renin-angiotensin system in the body, which plays a key role in causing respiratory problems in corona patients. ACE2 enzyme exists in two general sugar and non-sugar forms in the body. The sugar model of the ACE2 enzyme is known as a support for the attachment of the corona virus.

After attachment, viruses can use enzymes such as cathepsin-L to enter the cell. The important point in this complex pathway is the pH-dependent activity of ACE2 and cathepsin-L. In Bartter's syndrome, with a change in the level of electrolytes, the activity of the ACE2 enzyme and also the alkaline activities increase, and for this reason, the intracellular pH will increase significantly. For this reason, the severity of acute respiratory disorders in this case will be less than that of normal patients.

On the other hand, to prove this, researchers have compiled a list of patients with Bartter syndrome in Italy and then the medical records. This category of the statistical community has been examined to evaluate their symptoms in case of corona infection. According to the researchers' belief, the disorder in the body of patients with Bartter syndrome can provide the basis for the production of a good drug for the treatment of Corona. occur, but currently no study has been found that provides at least one optimal solution for the treatment of Bartter's syndrome. In any case, this disease should be taken seriously. Of course, if this rare disease can be correctly and timely identified in people; Because the imbalance of electrolytes will cause various diseases in the future. For example, osteoporosis, as well as other bone and cartilage defects, is one of the most common diseases at the international level.

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