Bartter Syndrome

Bartter syndrome
Bartter syndrome is a rare inherited defect in the thick The clinical ndings characteristic of Bartter syndrome
ascending limb of the loop of Henle. It is characterized by are hypokalemia, metabolic alkalosis, and normal to low
low potassium levels (hypokalemia),[1] increased blood blood pressure. These ndings may also be caused by:
pH (alkalosis), and normal to low blood pressure. There
are two types of Bartter syndrome: neonatal and clas Chronic vomiting: These patients will have low
sic. A closely associated disorder, Gitelman syndrome,
urine chloride levels (Bartters will have relatively
is milder than both subtypes of Bartter syndrome.
higher urine chloride levels).
Abuse of diuretic medications (water pills): The

physician must screen urine for multiple diuretics
before diagnosis is made.
Features
Magnesium deciency and Calcium deciency:

These patients will also have low serum and urine
magnesium and calcium
In 90% of cases, neonatal Bartter syndrome is seen between 24 and 30 weeks of gestation with excess amniotic
uid (polyhydramnios). After birth, the infant is seen to
urinate and drink excessively (polyuria, and polydipsia,
respectively). Life-threatening dehydration may result if
the infant does not receive adequate uids. About 85% of
infants dispose of excess amounts of calcium in the urine
(hypercalciuria) and kidneys (nephrocalcinosis), which
may lead to kidney stones. In rare occasions, the infant
may progress to renal failure.
Patients with Bartter syndrome may also have elevated

renin and aldosterone levels.[3]
Prenatal Bartter syndrome can be associated with
polyhydramnios.[4]
3 Pathophysiology
Patients with classic Bartter syndrome may have symptoms in the rst two years of life, but they are usually
diagnosed at school age or later. Like infants with the
neonatal subtype, patients with classic Bartter syndrome
also have polyuria, polydipsia, and a tendency to dehydration, but normal or just slightly increased urinary calcium excretion without the tendency to develop kidney
stones. These patients also have vomiting and growth
retardation. Kidney function is also normal if the disease is treated,[2] but occasionally patients proceed to
end-stage renal failure. Bartters syndrome consists of
hypokalaemia, alkalosis, normal to low blood pressures,
and elevated plasma renin and aldosterone. Numerous
causes of this syndrome probably exist. Diagnostic pointers include high urinary potassium and chloride despite
low serum values, increased plasma renin, hyperplasia of
the juxtaglomerular apparatus on renal biopsy, and careful exclusion of diuretic abuse. Excess production of renal prostaglandins is often found. Magnesium wasting
may also occur.
Bartter syndrome is caused by mutations of genes encoding proteins that transport ions across renal cells in the
thick ascending limb of the nephron.[2]
Bartter and Gitelman syndromes can be divided into different subtypes based on the genes involved:[5]
4 Treatment
While patients should be encouraged to include liberal
amounts of sodium and potassium in their diet, potassium
supplements are usually required, and spironolactone is
also used to reduce potassium loss.[1]
Nonsteroidal antiinammatory drugs (NSAIDs) can be
used as well, and are particularly helpful in patients with
neonatal Bartters syndrome.
Angiotensin-converting enzyme (ACE) inhibitors can
also be used.
Diagnosis
5 Prognosis
People suering from Bartter syndrome present symptoms that are identical to those of patients who are on The limited prognostic information available suggests that
loop diuretics like furosemide.
early diagnosis and appropriate treatment of infants and
1
EXTERNAL LINKS
young children with Classic Bartter Syndrome may improve growth and perhaps neurointellectual development.
On the other hand, sustained hypokalemia and hyperreninemia can cause progressive tubulointerstitial nephritis, resulting in end-stage-renal disease (Kidney failure).
With early treatment of the electrolyte imbalances the
prognosis for patients with Classic Bartter Syndrome is
good.
[4] Dane B, Yayla M, Dane C, Cetin A (2007). Prenatal

diagnosis of Bartter syndrome with biochemical examination of amniotic uid: case report. Fetal. Diagn.
Ther. 22 (3): 2068. doi:10.1159/000098719. PMID
17228161.
[6] Zaanello M, Taranta A, Palma A, Bettinelli A, Marseglia

GL, Emma F (2006). Type IV Bartter syndrome: report
of two new cases. Pediatr. Nephrol. 21 (6): 76670.
doi:10.1007/s00467-006-0090-x. PMID 16583241.
History
The condition is named after Dr. Frederic Bartter, who,

along with Dr. Pacita Pronove, rst described it in 1960
and in more patients in 1962.[3][8][9][10]
Related conditions
Bartter and Gitelman syndromes are both characterized by hypokalemia, hypomagnesemia, normal
to low blood pressure, and hypochloremic metabolic
alkalosis.[11]
[5] Naesens M, Steels P, Verberckmoes R, Vanrenterghem Y,

Kuypers D (2004). Bartters and Gitelmans syndromes:
from gene to clinic. Nephron Physiol 96 (3): p6578.
doi:10.1159/000076752. PMID 15056980.
[7] Vezzoli G, Arcidiacono T, Paloschi V, et al. (2006). Autosomal dominant hypocalcemia with mild type 5 Bartter
syndrome. J. Nephrol. 19 (4): 5258. PMID 17048213.
[8] Proesmans W (2006). Threading through the mizmaze
of Bartter syndrome. Pediatr. Nephrol. 21 (7): 896902.
doi:10.1007/s00467-006-0113-7. PMID 16773399.
[9] synd/2328 at Who Named It?
[10] http://www.whonamedit.com/synd.cfm/2328.html
[11] Gitelman HJ, Graham JB, Welt LG (1966). A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians 79: 22135.
PMID 5929460.
However, Bartter syndrome is also characterized by high

renin, high aldosterone, hypercalciuria, and an abnormal
Na+ -K+ 2Cl- transporter in the thick ascending limb of
the loop of Henle, Gitelman syndrome causes hypocalci- [12] Royal Brompton & Hareeld Hospital > Pseudo-Bartters
syndrome Retrieved Mars, 2011
uria and is due to an abnormal thiazide transporter in the
distal segment.
[13] Metyas, Samy; Rouman, Heba; Arkfeld, Daniel G.
Pseudo-Bartters syndrome is a syndrome of similar presentation as Bartter syndrome but without any of its characteristic genetic defects. Pseudo-Bartters syndrome has
been seen in cystic brosis,[12] as well as in excessive use
of laxatives.[13]
(2010). Pregnancy in a Patient With Gouty Arthritis Secondary to Pseudo-Bartter Syndrome.

JCR:
Journal of Clinical Rheumatology 16 (5): 219220.
doi:10.1097/RHU.0b013e3181e9312a.
9 External links
8
References
[1] Bartter Syndrome: Tubular and Cystic Kidney Disorders: Merck Manual Home Edition. Archived from the
original on 4 January 2008. Retrieved 2007-12-31.
[2] Rodriguez-Soriano J (1998). Bartter and related syndromes: the puzzle is almost solved. Pediatr Nephrol
12 (4): 31527. doi:10.1007/s004670050461. PMID
9655365.
[3] Bartter FC, Pronove P, Gill JR Jr, MacCardle RC (1962).
Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. Am J Med 33 (6): 81128. doi:10.1016/00029343(62)90214-0. PMID 13969763. Reproduced in
Bartter FC, Pronove P, Gill JR, MacCardle RC (1998).
Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. 1962. J. Am. Soc. Nephrol. 9 (3): 51628.
PMID 9513916.
The Bartter Site
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Bartter syndrome

Abuse of diuretic medications (water pills): The

Magnesium deciency and Calcium deciency:

Patients with Bartter syndrome may also have elevated

[4] Dane B, Yayla M, Dane C, Cetin A (2007). Prenatal

[6] Zaanello M, Taranta A, Palma A, Bettinelli A, Marseglia

The condition is named after Dr. Frederic Bartter, who,

[5] Naesens M, Steels P, Verberckmoes R, Vanrenterghem Y,

However, Bartter syndrome is also characterized by high

(2010). Pregnancy in a Patient With Gouty Arthritis Secondary to Pseudo-Bartter Syndrome.

The Bartter Site

Text and image sources, contributors, and licenses

Bartter syndrome Source: http://en.wikipedia.org/wiki/Bartter%20syndrome?oldid=599400841 Contributors: William Avery, Richard

Creative Commons Attribution-Share Alike 3.0

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