Bartter syndrome is an autosomal recessive condition that affects the kidneys’ ability to reabsorb electrolytes, such as sodium and potassium, leading to the loss of these essential minerals in the urine. This can result in low blood levels of potassium, known as hypokalemia, and high blood levels of chloride, known as hyperchloremia and hypomagnesemia in a few instances. The most frequent acid-base imbalance seen is metabolic alkalosis.
There are several different types of Bartter syndrome, each caused by mutations in different genes and the site of salt transport and reabsorption. Symptoms of Bartter syndrome include dehydration, muscle weakness, cramping, and tingling sensations in the hands and feet. Treatment typically involves electrolyte replacement therapy and medications to help regulate blood pressure and prevent kidney damage.
Epidemiology
Bartter syndrome is a rare genetic disorder that affects the kidneys’ ability to reabsorb salt and electrolytes, leading to excessive loss of potassium and other electrolytes in the urine. The exact incidence of Bartter syndrome is not known, but it is estimated to occur in 1 in every 60,000 to 100,000 live births.
Bartter syndrome’s prevalence is also estimated to be around 1 in every 250,000 people. Mortality rates vary depending on the type and severity of the disorder. However, with early diagnosis and proper treatment, most individuals with the condition have an average life expectancy.
Anatomy
Pathophysiology
Bartter syndrome is a disorder in which the kidneys cannot adequately reabsorb sodium and chloride in the thick ascending limb of the loop of Henle. This leads to excessive loss of salt and water from the body, activating the renin-angiotensin-aldosterone system (RAAS) and causing secondary hyperaldosteronism. Long-term stimulation causes hyperplasia of the juxtaglomerular apparatus, leading to increased renin levels.
As a result, there is increased loss of potassium in the urine, increased hydrogen ion secretion, and increased bicarbonate due to decreased hydrogen ion secretion. Additionally, the disorder impairs the ability to concentrate and dilute urine due to defective sodium absorption in the loop of Henle, which also leads to increased loss of calcium and magnesium. Nephrocalcinosis, characterized by the build-up of calcium in the kidneys, is often seen in patients with Bartter syndrome.
This is likely caused by the excessive loss of calcium in the urine due to impaired chloride transporters in the thick ascending limb of the loop of Henle. Normally, calcium and magnesium are absorbed through the walls of the tubules in this part of the kidney, driven by the positive charge in the lumen created by the reabsorption of negatively charged chloride ions. However, in Bartter syndrome, this process is disrupted, leading to the malabsorption of calcium and the development of nephrocalcinosis.
Etiology
There are five main types of Bartter syndrome, each caused by mutations in different genes. Type I results from mutations in the sodium chloride/potassium chloride cotransporter gene (NKCC2), Type II results from mutations in the ROMK gene, Type III results from mutations in the chloride channel gene (CLC-Kb), Type IV results from loss-of-function mutations in the gene encoding barttin. Type V results from mutations in the extracellular calcium ion-sensing receptor and genes that encode the chloride channel subunits, ClC-Ka and ClC-Kb. Bartter syndrome can also be secondary to aminoglycoside use.
An antenatal variant presents severe symptoms, such as, metabolic alkalosis, hypokalemia and profound systemic manifestations. In contrast, Bartter syndrome III and V typically present later in life with milder symptoms. Hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalcemia are commonly seen with an aminoglycoside-induced Bartter-like syndrome.
Genetics
Prognostic Factors
The prognosis for Bartter syndrome can vary depending on the specific type and severity of the condition. However, most people with Bartter syndrome can lead normal, healthy lives with proper treatment and management.
However, in some cases, the patients may have serious complications such as low blood pressure, kidney failure, and growth problems without treatment and management.
Clinical History
Clinical History
Bartter syndrome is usually diagnosed in childhood and adolescence. It is characterized by several symptoms, including stunted growth, polyuria (excessive urine output), polydipsia (excessive thirst), dehydration, cramps, constipation, vomiting, growth delays, and failure to thrive. A thorough history, including a family history of nephrocalcinosis and a detailed personal history, should be taken to rule out other potential causes, such as diuretic abuse and surreptitious vomiting.
Patients with Bartter syndrome may also have a history of maternal polyhydramnios and premature delivery. Symptoms may also include a salt craving, a tendency for volume depletion, and linear growth retardation. Other symptoms, such as fatigue, muscle weakness, cramps, and recurrent carpopedal spasms, may appear during late childhood. Additionally, developmental delay and minimal brain dysfunction with nonspecific electroencephalographic changes are also present.
Physical Examination
Physical Examination
Patients with Bartter syndrome often have a distinct physical appearance characterized by emaciation (severe weight loss), a prominent forehead, large eyes, crossed eyes (strabismus), sensorineural deafness, protruding ears, and a drooping mouth. Blood pressure is usually normal or low, but it may be elevated in long-standing cases.
In cases of antenatal Bartter syndrome, the fetus may have an excessive amount of amniotic fluid (polyhydramnios) due to excessive urine production (intrauterine polyuria). These infants are often born prematurely and may experience fever, sensorineural deafness, excessive urine production (profound polyuria), vomiting, diarrhea, and dehydration after birth. The facial appearance may be similar to that of the neonatal type of Bartter syndrome.
Age group
Associated comorbidity
Associated activity
Acuity of presentation
Differential Diagnoses
Differential Diagnoses
Congenital chloride diarrhea
Cyclical vomiting
Cystic fibrosis
Diuretic Abuse
Gitelman syndrome
Gullner syndrome
Hypochloremic alkalosis
Hypokalemia
Hypomagnesemia
Pyloric stenosis
Laboratory Studies
Imaging Studies
Procedures
Histologic Findings
Staging
Treatment Paradigm
In the neonatal period, it may be necessary to normalize potassium levels in the blood. This can be achieved through oral potassium supplementation, KCl at a dose of 25 to 100 mmol/day. tTo decrease elevated angiotensin II and aldosterone levels, limit proteinuria, and increase serum potassium in some cases. ACE inhibitors and angiotensin receptor blockers are also prescribed in few instances.
Other options include amiloride at a dosage of 5 to 40 mg/day, spironolactone, and indomethacin to counteract increased urine PGE2 levels. It is also important to consider magnesium supplementation, as low magnesium levels may worsen potassium wasting. Growth hormone (GH) is used to treat short stature. Calcium or magnesium supplements may be needed if muscle spasms or tetany are present. Tubular abnormalities are generally resolved after a kidney transplant and do not recur.
Severe Bartter syndrome causes frequent dehydration and electrolyte imbalances and is managed through preemptive nephrectomy and renal transplantation. This approach involves replacing kidneys before the patient reaches end-stage renal disease. This has been shown to correct metabolic abnormalities and maintain good kidney function effectively.
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Bartter syndrome is an autosomal recessive condition that affects the kidneys’ ability to reabsorb electrolytes, such as sodium and potassium, leading to the loss of these essential minerals in the urine. This can result in low blood levels of potassium, known as hypokalemia, and high blood levels of chloride, known as hyperchloremia and hypomagnesemia in a few instances. The most frequent acid-base imbalance seen is metabolic alkalosis.
There are several different types of Bartter syndrome, each caused by mutations in different genes and the site of salt transport and reabsorption. Symptoms of Bartter syndrome include dehydration, muscle weakness, cramping, and tingling sensations in the hands and feet. Treatment typically involves electrolyte replacement therapy and medications to help regulate blood pressure and prevent kidney damage.
Bartter syndrome is a rare genetic disorder that affects the kidneys’ ability to reabsorb salt and electrolytes, leading to excessive loss of potassium and other electrolytes in the urine. The exact incidence of Bartter syndrome is not known, but it is estimated to occur in 1 in every 60,000 to 100,000 live births.
Bartter syndrome’s prevalence is also estimated to be around 1 in every 250,000 people. Mortality rates vary depending on the type and severity of the disorder. However, with early diagnosis and proper treatment, most individuals with the condition have an average life expectancy.
Bartter syndrome is a disorder in which the kidneys cannot adequately reabsorb sodium and chloride in the thick ascending limb of the loop of Henle. This leads to excessive loss of salt and water from the body, activating the renin-angiotensin-aldosterone system (RAAS) and causing secondary hyperaldosteronism. Long-term stimulation causes hyperplasia of the juxtaglomerular apparatus, leading to increased renin levels.
As a result, there is increased loss of potassium in the urine, increased hydrogen ion secretion, and increased bicarbonate due to decreased hydrogen ion secretion. Additionally, the disorder impairs the ability to concentrate and dilute urine due to defective sodium absorption in the loop of Henle, which also leads to increased loss of calcium and magnesium. Nephrocalcinosis, characterized by the build-up of calcium in the kidneys, is often seen in patients with Bartter syndrome.
This is likely caused by the excessive loss of calcium in the urine due to impaired chloride transporters in the thick ascending limb of the loop of Henle. Normally, calcium and magnesium are absorbed through the walls of the tubules in this part of the kidney, driven by the positive charge in the lumen created by the reabsorption of negatively charged chloride ions. However, in Bartter syndrome, this process is disrupted, leading to the malabsorption of calcium and the development of nephrocalcinosis.
There are five main types of Bartter syndrome, each caused by mutations in different genes. Type I results from mutations in the sodium chloride/potassium chloride cotransporter gene (NKCC2), Type II results from mutations in the ROMK gene, Type III results from mutations in the chloride channel gene (CLC-Kb), Type IV results from loss-of-function mutations in the gene encoding barttin. Type V results from mutations in the extracellular calcium ion-sensing receptor and genes that encode the chloride channel subunits, ClC-Ka and ClC-Kb. Bartter syndrome can also be secondary to aminoglycoside use.
An antenatal variant presents severe symptoms, such as, metabolic alkalosis, hypokalemia and profound systemic manifestations. In contrast, Bartter syndrome III and V typically present later in life with milder symptoms. Hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalcemia are commonly seen with an aminoglycoside-induced Bartter-like syndrome.
The prognosis for Bartter syndrome can vary depending on the specific type and severity of the condition. However, most people with Bartter syndrome can lead normal, healthy lives with proper treatment and management.
However, in some cases, the patients may have serious complications such as low blood pressure, kidney failure, and growth problems without treatment and management.
Clinical History
Bartter syndrome is usually diagnosed in childhood and adolescence. It is characterized by several symptoms, including stunted growth, polyuria (excessive urine output), polydipsia (excessive thirst), dehydration, cramps, constipation, vomiting, growth delays, and failure to thrive. A thorough history, including a family history of nephrocalcinosis and a detailed personal history, should be taken to rule out other potential causes, such as diuretic abuse and surreptitious vomiting.
Patients with Bartter syndrome may also have a history of maternal polyhydramnios and premature delivery. Symptoms may also include a salt craving, a tendency for volume depletion, and linear growth retardation. Other symptoms, such as fatigue, muscle weakness, cramps, and recurrent carpopedal spasms, may appear during late childhood. Additionally, developmental delay and minimal brain dysfunction with nonspecific electroencephalographic changes are also present.
Physical Examination
Patients with Bartter syndrome often have a distinct physical appearance characterized by emaciation (severe weight loss), a prominent forehead, large eyes, crossed eyes (strabismus), sensorineural deafness, protruding ears, and a drooping mouth. Blood pressure is usually normal or low, but it may be elevated in long-standing cases.
In cases of antenatal Bartter syndrome, the fetus may have an excessive amount of amniotic fluid (polyhydramnios) due to excessive urine production (intrauterine polyuria). These infants are often born prematurely and may experience fever, sensorineural deafness, excessive urine production (profound polyuria), vomiting, diarrhea, and dehydration after birth. The facial appearance may be similar to that of the neonatal type of Bartter syndrome.
Differential Diagnoses
Congenital chloride diarrhea
Cyclical vomiting
Cystic fibrosis
Diuretic Abuse
Gitelman syndrome
Gullner syndrome
Hypochloremic alkalosis
Hypokalemia
Hypomagnesemia
Pyloric stenosis
In the neonatal period, it may be necessary to normalize potassium levels in the blood. This can be achieved through oral potassium supplementation, KCl at a dose of 25 to 100 mmol/day. tTo decrease elevated angiotensin II and aldosterone levels, limit proteinuria, and increase serum potassium in some cases. ACE inhibitors and angiotensin receptor blockers are also prescribed in few instances.
Other options include amiloride at a dosage of 5 to 40 mg/day, spironolactone, and indomethacin to counteract increased urine PGE2 levels. It is also important to consider magnesium supplementation, as low magnesium levels may worsen potassium wasting. Growth hormone (GH) is used to treat short stature. Calcium or magnesium supplements may be needed if muscle spasms or tetany are present. Tubular abnormalities are generally resolved after a kidney transplant and do not recur.
Severe Bartter syndrome causes frequent dehydration and electrolyte imbalances and is managed through preemptive nephrectomy and renal transplantation. This approach involves replacing kidneys before the patient reaches end-stage renal disease. This has been shown to correct metabolic abnormalities and maintain good kidney function effectively.
medtigo
Bartter Syndrome
Updated :
August 30, 2023
Bartter syndrome is an autosomal recessive condition that affects the kidneys’ ability to reabsorb electrolytes, such as sodium and potassium, leading to the loss of these essential minerals in the urine. This can result in low blood levels of potassium, known as hypokalemia, and high blood levels of chloride, known as hyperchloremia and hypomagnesemia in a few instances. The most frequent acid-base imbalance seen is metabolic alkalosis.
There are several different types of Bartter syndrome, each caused by mutations in different genes and the site of salt transport and reabsorption. Symptoms of Bartter syndrome include dehydration, muscle weakness, cramping, and tingling sensations in the hands and feet. Treatment typically involves electrolyte replacement therapy and medications to help regulate blood pressure and prevent kidney damage.
Bartter syndrome is a rare genetic disorder that affects the kidneys’ ability to reabsorb salt and electrolytes, leading to excessive loss of potassium and other electrolytes in the urine. The exact incidence of Bartter syndrome is not known, but it is estimated to occur in 1 in every 60,000 to 100,000 live births.
Bartter syndrome’s prevalence is also estimated to be around 1 in every 250,000 people. Mortality rates vary depending on the type and severity of the disorder. However, with early diagnosis and proper treatment, most individuals with the condition have an average life expectancy.
Bartter syndrome is a disorder in which the kidneys cannot adequately reabsorb sodium and chloride in the thick ascending limb of the loop of Henle. This leads to excessive loss of salt and water from the body, activating the renin-angiotensin-aldosterone system (RAAS) and causing secondary hyperaldosteronism. Long-term stimulation causes hyperplasia of the juxtaglomerular apparatus, leading to increased renin levels.
As a result, there is increased loss of potassium in the urine, increased hydrogen ion secretion, and increased bicarbonate due to decreased hydrogen ion secretion. Additionally, the disorder impairs the ability to concentrate and dilute urine due to defective sodium absorption in the loop of Henle, which also leads to increased loss of calcium and magnesium. Nephrocalcinosis, characterized by the build-up of calcium in the kidneys, is often seen in patients with Bartter syndrome.
This is likely caused by the excessive loss of calcium in the urine due to impaired chloride transporters in the thick ascending limb of the loop of Henle. Normally, calcium and magnesium are absorbed through the walls of the tubules in this part of the kidney, driven by the positive charge in the lumen created by the reabsorption of negatively charged chloride ions. However, in Bartter syndrome, this process is disrupted, leading to the malabsorption of calcium and the development of nephrocalcinosis.
There are five main types of Bartter syndrome, each caused by mutations in different genes. Type I results from mutations in the sodium chloride/potassium chloride cotransporter gene (NKCC2), Type II results from mutations in the ROMK gene, Type III results from mutations in the chloride channel gene (CLC-Kb), Type IV results from loss-of-function mutations in the gene encoding barttin. Type V results from mutations in the extracellular calcium ion-sensing receptor and genes that encode the chloride channel subunits, ClC-Ka and ClC-Kb. Bartter syndrome can also be secondary to aminoglycoside use.
An antenatal variant presents severe symptoms, such as, metabolic alkalosis, hypokalemia and profound systemic manifestations. In contrast, Bartter syndrome III and V typically present later in life with milder symptoms. Hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalcemia are commonly seen with an aminoglycoside-induced Bartter-like syndrome.
The prognosis for Bartter syndrome can vary depending on the specific type and severity of the condition. However, most people with Bartter syndrome can lead normal, healthy lives with proper treatment and management.
However, in some cases, the patients may have serious complications such as low blood pressure, kidney failure, and growth problems without treatment and management.
Clinical History
Bartter syndrome is usually diagnosed in childhood and adolescence. It is characterized by several symptoms, including stunted growth, polyuria (excessive urine output), polydipsia (excessive thirst), dehydration, cramps, constipation, vomiting, growth delays, and failure to thrive. A thorough history, including a family history of nephrocalcinosis and a detailed personal history, should be taken to rule out other potential causes, such as diuretic abuse and surreptitious vomiting.
Patients with Bartter syndrome may also have a history of maternal polyhydramnios and premature delivery. Symptoms may also include a salt craving, a tendency for volume depletion, and linear growth retardation. Other symptoms, such as fatigue, muscle weakness, cramps, and recurrent carpopedal spasms, may appear during late childhood. Additionally, developmental delay and minimal brain dysfunction with nonspecific electroencephalographic changes are also present.
Physical Examination
Patients with Bartter syndrome often have a distinct physical appearance characterized by emaciation (severe weight loss), a prominent forehead, large eyes, crossed eyes (strabismus), sensorineural deafness, protruding ears, and a drooping mouth. Blood pressure is usually normal or low, but it may be elevated in long-standing cases.
In cases of antenatal Bartter syndrome, the fetus may have an excessive amount of amniotic fluid (polyhydramnios) due to excessive urine production (intrauterine polyuria). These infants are often born prematurely and may experience fever, sensorineural deafness, excessive urine production (profound polyuria), vomiting, diarrhea, and dehydration after birth. The facial appearance may be similar to that of the neonatal type of Bartter syndrome.
Differential Diagnoses
Congenital chloride diarrhea
Cyclical vomiting
Cystic fibrosis
Diuretic Abuse
Gitelman syndrome
Gullner syndrome
Hypochloremic alkalosis
Hypokalemia
Hypomagnesemia
Pyloric stenosis
In the neonatal period, it may be necessary to normalize potassium levels in the blood. This can be achieved through oral potassium supplementation, KCl at a dose of 25 to 100 mmol/day. tTo decrease elevated angiotensin II and aldosterone levels, limit proteinuria, and increase serum potassium in some cases. ACE inhibitors and angiotensin receptor blockers are also prescribed in few instances.
Other options include amiloride at a dosage of 5 to 40 mg/day, spironolactone, and indomethacin to counteract increased urine PGE2 levels. It is also important to consider magnesium supplementation, as low magnesium levels may worsen potassium wasting. Growth hormone (GH) is used to treat short stature. Calcium or magnesium supplements may be needed if muscle spasms or tetany are present. Tubular abnormalities are generally resolved after a kidney transplant and do not recur.
Severe Bartter syndrome causes frequent dehydration and electrolyte imbalances and is managed through preemptive nephrectomy and renal transplantation. This approach involves replacing kidneys before the patient reaches end-stage renal disease. This has been shown to correct metabolic abnormalities and maintain good kidney function effectively.
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