Table of ContentsView AllTable of ContentsTypesSymptomsCausesDiagnosisTreatmentPrognosis
Table of ContentsView All
View All
Table of Contents
Types
Symptoms
Causes
Diagnosis
Treatment
Prognosis
Bartter syndrome is named after Dr. Frederic Bartter who first described the genetic disorder in 1962.
Peter Dazeley / Getty Images
Types of Bartter Syndrome
There are five main types of Bartter syndrome, each associated with a specific gene mutation. Depending on the type involved, symptoms of Bartter syndrome may be apparent at or near the time of birth (antenatal) or later in life.
Depending on the mutation involved, symptoms can range from mild (as with “classic” type 3) to severe (most especially with types 4 and 5).
The mutations can dictate which type of symptoms develop and whether boys are girls are more likely to be affected.
What Are the Symptoms of Bartter Syndrome?
Newborns with Bartter syndrome typically urinate excessively (polyuria), show signs of excessive thirst (polydipsia), and experience vomiting and diarrhea.Although polyuria in newborns can be life-threatening, the kidney function of some babies with this condition normalizes within weeks and requires no further treatment.
Among the characteristic symptoms of Bartter syndrome:
Symptoms of Bartter syndrome can vary substantially among children, with some experiencing only mild ones. Those with antenatal symptoms tend tof are worse, mainly because the loss of salt, potassium, or calcium can interfere with normal fetal development.
Causes of Bartter Syndrome
Bartter syndrome is an autosomal recessive pattern, meaning that two copies of an abnormal gene—one from the father and one from the mother—must be present in order for the disease to develop.
The genes are meant to encode proteins that transport salt and electrolytes like potassium and calcium into the kidneys for reabsorption in the loop of Henle (the U-shaped tubule where water and salt are recovered from urine). If the genes are mutated, the resulting proteins cannot transport some or all of these compounds through the cells of the loop of Henle.
The specific genetic mutations relate to the five main types of Bartter syndrome:
Bartter syndrome is rare, affecting only around one of every 1.2 million births. It occurs more often in children born to parents who areconsanguineous(closely related). The condition appears to be more common in Costa Rica and Kuwait than in any other population.
There is little research regarding life expectancy in children with Bartter syndrome, but most evidence suggests that the prospects are good if the disease is diagnosed and treated early.
Despite the impact that Bartter syndrome can have on the kidneys,renal failureis rare.
Diagnosis of Bartter Syndrome
Bartter syndrome is diagnosed based on a review of symptoms and medical history along with various blood and urine tests. Because the disorder is so rare, input from a geneticist, genetic counselor, and other specialists is often needed.
Blood tests to diagnose Bartter syndrome look for low levels of potassium, chloride, magnesium, and bicarbonate in the blood as well as elevated levels of the hormones renin and aldosterone.
Urinalysis looks for abnormally high levels of sodium, chloride, potassium, calcium, and magnesium in urine as well as the presence ofprostaglandin E2(a marker for kidney inflammation).
The antenatal forms of Bartter syndrome can often be diagnosed before birth when polyhydramnios is detected without the presence of congenital birth defects. There also are elevated levels of chloride and aldosterone in amniotic fluid.
Molecular genetic testingcan confirm a diagnosis. There are several genetic tests that can detect the various mutations associated with Bartter syndrome, available only through specialized genetic laboratories.
Additional genetic testing may be needed to differentiate Bartter syndrome from a closely related but milder inherited disorder known asGitelman syndrome.
Bartter Syndrome Treatment
The primary goal of treating Bartter syndrome is to restore the balance of fluids and electrolytes. How this is done largely depends on the severity of symptoms.
Some children require minimal management or their fluid/electrolyte balance may become normal spontaneously without treatment. Others may require lifelong care from a team of providers, including a pediatrician, general internist, and/or nephrologist.
Medications
Sodium, potassium chloride, and magnesium supplements are often used to correct electrolyte imbalances. Other drugs may be prescribed to treat inflammation and low prostaglandin levels that promote excessive urination, such asnonsteroidal anti-inflammatory drugs (NSAIDs)like Advil (ibuprofen), Celebrex (celecoxib), and Tivorbex (indomethacin).
Other drugs, such as aldosterone antagonists, angiotensin II receptor blockers, and angiotensin-converting enzyme (ACE) inhibitors, may be needed to reduce renin levels and the risk of kidney damage.
Depending on which electrolytes are imbalanced, some people may require potassium-sparing diuretics such as spironolactone or amiloride to increase the excretion of sodium in urine but retain potassium.
What You Should Know About Diuretics
Other Interventions
Kidney transplant can correct severe abnormalities and has, in rare cases, been performed when someone has developed the complication of renal failure.
Infants with severe, life-threatening symptoms may require intravenous (IV) salt and water replacement. Children who fail to thrive often benefit from growth hormone therapy to overcome growth retardation and short stature.Cochlear implantscan be used to treat deafness associated with Bartter syndrome type 4.
In addition to supplements and adequate hydration, children may be encouraged to eat foods high in salt and potassium (with monitoring).
As a child with Bartter syndrome gets older, the condition generally becomes easier to manage.
When Do I Need a Kidney Specialist?
Bartter Syndrome Prognosis
The outlook for people with Bartter syndrome is generally favorable. With management, most people will go on to live normal lives.
A 2022 review concluded that early diagnosis and treatment of Bartter syndrome may prevent long-term consequences such as growth failure, over-deposition of calcium in the kidneys, and end-stage renal disease.
The outcome of a 2022 study that followed people with Bartter syndrome from 1996 to 2020 found favorable results after treatment, leading to metabolic normalization and completely recovered growth in 71% and partial growth catch-up in an additional 14%.
Summary
Bartter syndrome is a rare and potentially serious genetic disorder that, if detected early, usually can be managed with diet, medications, and supplements. Even when symptoms are severe, there are treatments available to help restore hearing and correct severe kidney dysfunction.
The outlook for people with Bartter syndrome has improved considerably in recent years. With proper, lifelong management of the disease, including adequate hydration and the maintenance of electrolytes, most people with Bartter syndrome can avoid long-term complications (such as renal failure) and live normal, productive lives.
9 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
Bartter FC, Pronove P, Gill JR, MacCardle RC.Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome.Am J Med.1962;33(6):811-28. doi:10.1016/0002-9343(62)90214-0
Cunha TDS, Heilberg IP.Bartter syndrome: causes, diagnosis, and treatment.Int J Nephrol Renovasc Dis. 2018;11:291-301. doi:10.2147/IJNRD.S155397
Laghmani K, Beck BB, Yang SS, et al.Polyhydramnios, transient antenatal Bartter’s syndrome, and MAGED2 mutations.N Engl J Med.2016;374(19):1853-63. doi:10.1056/NEJMoa1507629
Kaur A, Webb NJA, Shenoy M, Hulton SA (2018)Bartter Syndrome, 15-year Experience in the United Kingdom.J Rare Disord Diagn Ther. 2018;4:3. doi:10.21767/2380-7245.100173
Choi N, Kim SH, Bae EH, et al.Long-term outcome of Bartter syndrome in 54 patients: A multicenter study in Korea [published correction appears in Front Med (Lausanne). 2023 May 31;10:1225353].Front Med (Lausanne). 2023;10:1099840. Published 2023 Mar 13. doi:10.3389/fmed.2023.1099840
Mrad FCC, Soares SBM, de Menezes Silva LAW, Dos Anjos Menezes PV, Simões-E-Silva AC.Bartter’s syndrome: clinical findings, genetic causes and therapeutic approach.World J Pediatr. 2021;17(1):31-39. doi:10.1007/s12519-020-00370-4
Rodriges JHP, Menezes Silva LAW, Soares SBM, Cruz RRO, Mrad FCC, Simoes E Silva AC.Clinical Course of Patients with Bartter Syndrome.Iran J Kidney Dis. 2022;16(3):162-170.
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