- Also called:
- potassium wasting syndrome
- Related Topics:
- adrenal gland
- kidney
- hypoaldosteronism
- potassium deficiency
Bartter syndrome
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What is Bartter syndrome?
Bartter syndrome refers to several rare kidney disorders characterized by excessive potassium excretion in the urine. Onset typically occurs in infancy or childhood, potentially leading to short stature and intellectual disability.
Several genetic defects affecting potassium and chloride transport in the renal tubules are associated with Bartter syndrome. These mutations have led to the classification of Bartter syndrome into three main categories: neonatal Bartter syndrome, classic Bartter syndrome, and Gitelman syndrome.
Diagnosis involves detecting increased potassium levels in the urine and elevated aldosterone and renin concentrations in the blood serum. Treatment includes potassium supplements and drugs that inhibit prostaglandin formation, such as indomethacin. Despite treatment, kidney failure may occur in some patients.
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Which part of the body does Bartter syndrome mainly affect?
Bartter syndrome is a rare genetic disorder that primarily affects the kidneys, leading to excessive potassium excretion in the urine. This can result in metabolic alkalosis and increased hormone production.
Several genetic defects, affecting potassium and chloride transport in the renal tubules, are associated with Bartter syndrome. Diagnosis involves finding increased potassium levels in the urine and high concentrations of aldosterone and renin in the blood serum. Treatment includes potassium supplements and drugs like indomethacin to inhibit prostaglandin formation, though kidney failure may still occur in some patients.
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What are the main symptoms of Bartter syndrome?
Bartter syndrome, named after American endocrinologist Frederic Bartter, is characterized by primary features including increased potassium levels in the urine and high concentrations of the kidney enzyme renin in the blood serum. Additional indicators may include increased aldosterone, metabolic alkalosis (resulting from potassium and chloride depletion), and elevated urinary excretion of prostaglandins.
Onset typically occurs in infancy or childhood, potentially leading to short stature and intellectual disability. The syndrome is divided into neonatal, classic, and Gitelman types, each linked to specific genetic defects affecting potassium and chloride transport in the renal tubules.
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How does Bartter syndrome change the way the kidneys work?
Bartter syndrome disrupts kidney function, leading to excessive potassium excretion in urine. This disorder is often marked by increased aldosterone production, resulting in secondary hyperaldosteronism. Genetic defects affecting potassium and chloride transport in renal tubules are associated with this syndrome.
Diagnosis is based on elevated urine potassium levels and increased aldosterone and renin concentrations in blood serum. Bartter syndrome can also cause metabolic alkalosis and increased prostaglandin production. Treatment includes potassium supplements and prostaglandin inhibitors; however, some patients may develop kidney failure.
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What causes Bartter syndrome at the cellular or genetic level?
Bartter syndrome stems from genetic defects affecting primarily potassium and chloride transport in the renal tubules. These mutations, occurring in different genes, categorize Bartter syndrome into neonatal, classic, and Gitelman syndrome.
Neonatal Bartter syndrome involves mutations in the SLC12A1 and KCNJ1 genes, which are crucial for maintaining sodium and potassium balance. Classic Bartter syndrome (type 3) is caused by mutations in the CLCNKB gene, which is involved in chloride reabsorption. Gitelman syndrome is caused by mutations in SLC12A3, which encodes a protein that transports sodium and chloride in the kidney tubules.
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How do doctors diagnose and manage Bartter syndrome?
Doctors diagnose Bartter syndrome through findings such as increased potassium levels in urine and higher concentrations of aldosterone and renin in blood serum. Additional indicators include metabolic alkalosis and increased urinary excretion of prostaglandins. Diagnosis of Gitelman syndrome is based on similar findings, along with hypomagnesemia and hypocalciuria.
Management of Bartter syndrome may involve potassium supplements and other supplements to maintain electrolyte concentrations. Drugs that inhibit prostaglandin formation, like indomethacin, can reverse other symptoms, though some patients may develop kidney failure despite treatment.
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Bartter syndrome, any of several rare disorders affecting the kidneys and characterized primarily by the excessive excretion of potassium in the urine.
Discovery of Bartter syndrome
Bartter syndrome is named after American endocrinologist Frederic Bartter, who described the primary characteristics of the disorder in the early 1960s. Bartter examined two patients, both of whom had potassium deficiency (hypokalemia); abnormal increases in the number of cells (hyperplasia) of the juxtaglomerular apparatus of the kidneys; and high serum concentrations of a kidney enzyme known as renin. Bartter observed that these abnormalities were associated with resultant increases in angiotensin, a peptide produced when renin cleaves a substance in the blood plasma called angiotensinogen, as well as increases in the production of aldosterone, a steroid hormone secreted by the adrenal gland. Increased production of aldosterone was subsequently associated with excessive potassium excretion. Because increased production of aldosterone is a central finding of Bartter syndrome, the disorder is recognized as a form of secondary hyperaldosteronism.
Types of Bartter syndrome
The onset of Bartter syndrome is usually in infancy or in childhood and may result in short stature and intellectual disability. Several genetic defects, primarily affecting potassium and chloride transport in the renal tubules, have been associated with the syndrome. The discovery of these mutations, occurring in different genes, has led to the stratification of Bartter syndrome into three main categories: neonatal Bartter syndrome, appearing in utero between 24 and 30 weeks of gestation; classic Bartter syndrome, appearing in infancy or early childhood; and Gitelman syndrome, appearing in late childhood or in adulthood.
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There are two different types of neonatal Bartter syndrome, and these are clinically indistinguishable, even though they arise from mutations in different genes. Type 1 is caused by mutation of the gene designated SLC12A1 (solute carrier family 12, member 1), whereas type 2 is caused by mutation of the gene KCNJ1 (potassium inwardly rectifying channel, subfamily J, member 1). These genes play fundamental roles in maintaining physiological homeostasis of sodium and potassium concentrations.
Classic Bartter syndrome, or type 3, is caused by mutation in the gene known as CLCNKB (chloride channel Kb), which functions in the reabsorption of chloride and hence sodium in the kidney tubules. Mutations underlying classic Bartter syndrome result in the loss of function of the encoded protein, thereby leading to excessive excretion of sodium in the urine. This form of the syndrome appears to be hereditary. There also exists infantile Bartter syndrome with sensorineural deafness, or type 4, which arises from a combination of variations in CLCNKB and CLCNKA (chloride channel Ka) or from variation of the gene called BSND (Bartter syndrome, infantile, with sensorineural deafness).
Gitelman syndrome is caused by mutations in SLC12A3 (solute carrier family 12, member 3), which encodes a protein that specializes in the transport of sodium and chloride into the kidney tubules, thereby mediating the reabsorption of these electrolytes and maintaining electrolyte homeostasis.
Diagnosis and treatment
Bartter syndrome is diagnosed primarily on findings of increased potassium levels in the urine and increased concentrations of aldosterone and renin in the blood serum. Other findings may include metabolic alkalosis, which is a loss of acid from the body that arises from potassium and chloride depletion, and increased production and urinary excretion of prostaglandins, hormonelike substances that are derived from fatty acids. Diagnosis of Gitelman syndrome is based on findings similar to Bartter syndrome, as well as on hypomagnesemia, or abnormally low serum concentrations of magnesium, and hypocalciuria, or decreased levels of calcium in the urine.
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Hypokalemia may be treated with potassium supplements, and additional supplements may be used to maintain sodium and other electrolyte concentrations. Other symptoms of Bartter syndrome may be reversed by drugs that inhibit the formation of prostaglandins, such as the anti-inflammatory agent indomethacin. Despite treatment, some patients may develop kidney failure.