Do you know Barter’s syndrome, its types and treatment? .. Injured Saudis ordering

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Families are forced to perform a genetic analysis at their expense for a diagnosis that costs between 10 and 15,000

Despite the scarcity of infection around the world, the Kingdom recorded many cases of “Barter” syndrome, which is named after the American doctor “Frederick Barter” when he described for the first time patients suffering from this syndrome in 1960 AD.

Barter’s syndrome is a rare inherited defect in the ascending limb of Henle’s loop in the kidney, causing loss of salts in the urine, hypokalemia, low acidity of blood, blood pressure between high and normal and low, and levels of calcium in the urine between Level and high.

The syndrome is classified into three clinical forms: The first is the prenatal pattern, and its symptoms and effects begin before birth, which is a serious condition and may be life-threatening, where infected children do not grow properly in the womb, or a very early birth may occur, and often these people develop sensory deafness Or mental and motor impairment.

The second form is the classic pattern, and it usually begins in early childhood, and it is not as dangerous as the previous one, but it can affect growth and cause a delay in kinetic spiritual development. Third, “Gettleman syndrome”, which is a subtype of “Barter’s syndrome”, and tends to occur Late, usually 6 years old.

Citizen Ahmed bin Ali Al-Omari, the father of one of the patients who had the disease caused by kidney failure since the age of four and the founder of the “Barter Syndrome” voice platform, told “previously”: he was surprised that there were many cases from different regions of the Kingdom of different ages, which I have communicated with since the launch of the platform on the website Social media “Twitter” last June, noting that he had contacted the Ministry of Health to clarify the data of the patients with this disease and inquire about the special services provided to them like the rest of the people with rare syndromes, and he did not obtain information.

Al-Omari explained that people with Barter syndrome face various difficulties in caring for their children, adding that the most important problems facing them lie in the lack of qualified medical personnel to deal with this disease, especially the provinces and small cities doctors, due to its rarity and not being fully aware of its minutes that negatively affect The patient, besides the lack of provision of medical devices to assist the injured due to the high cost, where patients need to perform analyzes frequently to measure the level of salts in the blood, pointing out that the families of the injured are forced to perform genetic analysis in many cases at their personal expense to diagnose Injury definitively, ranging from the value of this analysis between 10-15 thousand riyals.

And Ahmed Al-Omari expressed his surprise that the Ministry of Human Resources and Social Development did not classify the disease, “Barter’s Syndrome,” among the rare diseases included in the comprehensive rehabilitation support. The first is support and rehabilitation.

For his part, Dr. Fadel Al-Ruwaie, consultant of kidney and internal diseases and assistant professor of internal medicine, spoke about the syndrome through his account on Twitter, indicating that the syndrome is one of the rare genetic diseases that result from the genetic mutation of one of the channels in the renal tubes, which leads to The kidneys’ inability to retain salts such as sodium, potassium and magnesium, indicating that there are several types of “Barter” syndrome depending on the type of gene mutation and the time the disease was diagnosed.

And he showed that the symptoms are similar between Barter’s syndrome and “Guitleman” syndrome, which are: feeling thirsty, dehydration, lethargy, at times cramps, inability to move, and the syndrome is accompanied by increased calcium in the urine, which may result in calcification of the kidneys.

And on the treatment, Al-Ruwaie revealed that the treatment is by replacing the sodium salts as well as the potassium in very large quantities. Sometimes we use some pressure medications that reduce the loss of potassium in the urine, and rarely use some non-steroid pain relievers.

And he stated that the syndrome in itself does not cause kidney failure; however, the inability to correct the potassium level to the normal limit results in slow cirrhosis leading to kidney failure, and whoever has the potassium level naturally does not reach the kidney failure.

“In the event of renal failure of a patient with Barter’s syndrome or Getelman syndrome, kidney transplantation remains the optimal solution after the transplantation of the kidney, and the transplanted kidney maintains the level of potassium and other salts, which means the treatment of kidney failure and recovery from the syndrome,” he said. In the future, there will be gene therapy that repairs the damaged gene and treats the disease, and added: “But I don’t know when that will be.”

Barter’s syndrome

Do you know Barter’s syndrome, its types and treatment? .. Injured Saudis seeking care!

Already

Despite the scarcity of infection around the world, the Kingdom recorded many cases of “Barter” syndrome, which is named after the American doctor “Frederick Barter” when he described for the first time patients suffering from this syndrome in 1960 AD.

Barter’s syndrome is a rare inherited defect in the ascending limb of Henle’s loop in the kidney, causing loss of salts in the urine, hypokalemia, low acidity of blood, blood pressure between high and normal and low, and levels of calcium in the urine between Level and high.

The syndrome is classified into three clinical forms: The first is the prenatal pattern, and its symptoms and effects begin before birth, which is a serious condition and may be life-threatening, where infected children do not grow properly in the womb, or a very early birth may occur, and often these people develop sensory deafness Or mental and motor impairment.

The second form is the classic pattern, and it usually begins in early childhood, and it is not as dangerous as the previous one, but it can affect growth and cause a delay in kinetic spiritual development. Third, “Gettleman syndrome”, which is a subtype of “Barter’s syndrome”, and tends to occur Late, usually 6 years old.

Citizen Ahmed bin Ali Al-Omari, the father of one of the patients who had the disease caused by kidney failure since the age of four and the founder of the “Barter Syndrome” voice platform, told “previously”: he was surprised that there were many cases from different regions of the Kingdom of different ages, which I have communicated with since the launch of the platform on the website Social media “Twitter” last June, noting that he had contacted the Ministry of Health to clarify the data of the patients with this disease and inquire about the special services provided to them like the rest of the people with rare syndromes, and he did not obtain information.

Al-Omari explained that people with Barter syndrome face various difficulties in caring for their children, adding that the most important problems facing them lie in the lack of qualified medical personnel to deal with this disease, especially the provinces and small cities doctors, due to its rarity and not being fully aware of its minutes that negatively affect The patient, besides the lack of provision of medical devices to assist the injured due to the high cost, where patients need to perform analyzes frequently to measure the level of salts in the blood, pointing out that the families of the injured are forced to perform genetic analysis in many cases at their personal expense to diagnose Injury definitively, ranging from the value of this analysis between 10-15 thousand riyals.

And Ahmed Al-Omari expressed his surprise that the Ministry of Human Resources and Social Development did not classify the disease, “Barter’s Syndrome,” among the rare diseases included in the comprehensive rehabilitation support. The first is support and rehabilitation.

For his part, Dr. Fadel Al-Ruwaie, consultant of kidney and internal diseases and assistant professor of internal medicine, spoke about the syndrome through his account on Twitter, indicating that the syndrome is one of the rare genetic diseases that result from the genetic mutation of one of the channels in the renal tubes, which leads to The kidneys’ inability to retain salts such as sodium, potassium and magnesium, indicating that there are several types of “Barter” syndrome depending on the type of gene mutation and the time the disease was diagnosed.

And he showed that the symptoms are similar between Barter’s syndrome and “Guitleman” syndrome, which are: feeling thirsty, dehydration, lethargy, at times cramps, inability to move, and the syndrome is accompanied by increased calcium in the urine, which may result in calcification of the kidneys.

And on the treatment, Al-Ruwaie revealed that the treatment is by replacing the sodium salts as well as the potassium in very large quantities. Sometimes we use some pressure medications that reduce the loss of potassium in the urine, and rarely use some non-steroid pain relievers.

And he stated that the syndrome in itself does not cause kidney failure; however, the inability to correct the potassium level to the normal limit results in slow cirrhosis leading to kidney failure, and whoever has the potassium level naturally does not reach the kidney failure.

“In the event of renal failure of a patient with Barter’s syndrome or Getelman syndrome, kidney transplantation remains the optimal solution after the transplantation of the kidney, and the transplanted kidney maintains the level of potassium and other salts, which means the treatment of kidney failure and recovery from the syndrome,” he said. In the future, there will be gene therapy that repairs the damaged gene and treats the disease, and added: “But I don’t know when that will be.”

March 05 2020 – 10 Rajab 1441

09:21 AM


Families are forced to perform a genetic analysis at their expense for a diagnosis that costs between 10 and 15,000

Despite the scarcity of infection around the world, the Kingdom recorded many cases of “Barter” syndrome, which is named after the American doctor “Frederick Barter” when he described for the first time patients suffering from this syndrome in 1960 AD.

Barter’s syndrome is a rare inherited defect in the ascending limb of Henle’s loop in the kidney, causing loss of salts in the urine, hypokalemia, low acidity of blood, blood pressure between high and normal and low, and levels of calcium in the urine between Level and high.

The syndrome is classified into three clinical forms: The first is the prenatal pattern, and its symptoms and effects begin before birth, which is a serious condition and may be life-threatening, where infected children do not grow properly in the womb, or a very early birth may occur, and often these people develop sensory deafness Or mental and motor impairment.

The second form is the classic pattern, and it usually begins in early childhood, and it is not as dangerous as the previous one, but it can affect growth and cause a delay in kinetic spiritual development. Third, “Gettleman syndrome”, which is a subtype of “Barter’s syndrome”, and tends to occur Late, usually 6 years old.

Citizen Ahmed bin Ali Al-Omari, the father of one of the patients who had the disease caused by kidney failure since the age of four and the founder of the “Barter Syndrome” voice platform, told “previously”: he was surprised that there were many cases from different regions of the Kingdom of different ages, which I have communicated with since the launch of the platform on the website Social media “Twitter” last June, noting that he had contacted the Ministry of Health to clarify the data of the patients with this disease and inquire about the special services provided to them like the rest of the people with rare syndromes, and he did not obtain information.

Al-Omari explained that people with Barter syndrome face various difficulties in caring for their children, adding that the most important problems facing them lie in the lack of qualified medical personnel to deal with this disease, especially the provinces and small cities doctors, due to its rarity and not being fully aware of its minutes that negatively affect The patient, besides the lack of provision of medical devices to assist the injured due to the high cost, where patients need to perform analyzes frequently to measure the level of salts in the blood, pointing out that the families of the injured are forced to perform genetic analysis in many cases at their personal expense to diagnose Injury definitively, ranging from the value of this analysis between 10-15 thousand riyals.

And Ahmed Al-Omari expressed his surprise that the Ministry of Human Resources and Social Development did not classify the disease, “Barter’s Syndrome,” among the rare diseases included in the comprehensive rehabilitation support. The first is support and rehabilitation.

For his part, Dr. Fadel Al-Ruwaie, consultant of kidney and internal diseases and assistant professor of internal medicine, spoke about the syndrome through his account on Twitter, indicating that the syndrome is one of the rare genetic diseases that result from the genetic mutation of one of the channels in the renal tubes, which leads to The kidneys’ inability to retain salts such as sodium, potassium and magnesium, indicating that there are several types of “Barter” syndrome depending on the type of gene mutation and the time the disease was diagnosed.

And he showed that the symptoms are similar between Barter’s syndrome and “Guitleman” syndrome, which are: feeling thirsty, dehydration, lethargy, at times cramps, inability to move, and the syndrome is accompanied by increased calcium in the urine, which may result in calcification of the kidneys.

And on the treatment, Al-Ruwaie revealed that the treatment is by replacing the sodium salts as well as the potassium in very large quantities. Sometimes we use some pressure medications that reduce the loss of potassium in the urine, and rarely use some non-steroid pain relievers.

And he stated that the syndrome in itself does not cause kidney failure; however, the inability to correct the potassium level to the normal limit results in slow cirrhosis leading to kidney failure, and whoever has the potassium level naturally does not reach the kidney failure.

“In the event of renal failure of a patient with Barter’s syndrome or Getelman syndrome, kidney transplantation remains the optimal solution after the transplantation of the kidney, and the transplanted kidney maintains the level of potassium and other salts, which means the treatment of kidney failure and recovery from the syndrome,” he said. In the future, there will be gene therapy that repairs the damaged gene and treats the disease, and added: “But I don’t know when that will be.”

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