Bartter syndrome
4050210
219294221
2008-06-14T15:04:10Z
William Avery
1398
Reverted edits by [[Special:Contributions/91.51.78.36|91.51.78.36]] ([[User talk:91.51.78.36|talk]]) to last version by Dpryan
{{Cleanup|date=February 2007}} {{expert-subject|Medicine}}
{{Infobox_Disease |
Name = Bartter syndrome |
Image = Gray1128.png |
Caption = Scheme of renal tubule and its vascular supply. |
DiseasesDB = 1254 |
ICD10 = {{ICD10|E|26|8|e|20}} |
ICD9 = {{ICD9|255.13}} |
ICDO = |
OMIM = 601678 |
OMIM_mult = {{OMIM2|241200}} {{OMIM2|607364}} {{OMIM2|602522}}|
MedlinePlus = |
eMedicineSubj = med|
eMedicineTopic = 213 |
eMedicine_mult = {{eMedicine2|ped|210}} |
MeshID = D001477 |
}}
'''Bartter syndrome''' is a rare inherited defect in the [[thick ascending limb]] of the [[loop of Henle]]. It is characterized by low potassium levels ([[hypokalemia]]), decreased acidity of blood ([[alkalosis]]), and normal to low blood pressure. There are two types of Bartter syndrome: neonatal and classic. A closely associated disorder, [[Gitelman syndrome]], is milder than both subtypes of Bartter syndrome.
==History==
The condition is named after Dr. [[Frederic Bartter]], who, along with Dr. Pacita Pronove, first described it in 1960 and in more patients in 1962.<ref name=Bartter>{{cite journal | author=Bartter FC, Pronove P, Gill JR Jr, MacCardle RC | title=Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome | journal=Am J Med | year=1962 | pages=811–28 | volume=33 | pmid=13969763 | doi=10.1016/0002-9343(62)90214-0}} Reproduced in {{cite journal |author=Bartter FC, Pronove P, Gill JR, MacCardle RC |title=Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. 1962 |journal=J. Am. Soc. Nephrol. |volume=9 |issue=3 |pages=516–28 |year=1998 |pmid=9513916 |doi=}}</ref><ref name="pmid16773399">{{cite journal |author=Proesmans W |title=Threading through the mizmaze of Bartter syndrome |journal=Pediatr. Nephrol. |volume=21 |issue=7 |pages=896–902 |year=2006 |pmid=16773399 |doi=10.1007/s00467-006-0113-7}}</ref><ref>{{WhoNamedIt|synd|2328}}</ref>
==Features==
In 90% of cases, '''neonatal Bartter syndrome''' is seen between 24 and 30 weeks of gestation with excess [[Amniotic sac|amniotic fluid]] (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 fluids. About 85% of infants dispose of excess amounts of calcium in the urine ([[hypercalciuria]]) and kidneys ([[nephrocalcinosis]]), which may lead to [[kidney stone]]s. In rare occasions, the infant may progress to renal failure.
Patients with '''classic Bartter syndrome''' may have symptoms in the first 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,<ref name="Rodriguez">{{cite journal | author=Rodriguez-Soriano J | title=Bartter and related syndromes: the puzzle is almost solved | journal=Pediatr Nephrol | year=1998 | pages=315–27 | volume=12 | issue=4 | pmid=9655365 | doi=10.1007/s004670050461}}</ref> but occasionally patients proceed to end-stage renal failure.
Bartter's syndrome consists of hypokalaemia, alkalosis, normal 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.
==Diagnosis==
People suffering from Bartter syndrome present symptoms which are identical to those of patients who are on [[loop diuretics]] like [[furosemide]].
The clinical findings characteristic of Bartter syndrome are hypokalemia, metabolic alkalosis, and normal to low blood pressure. These findings may also be caused by:
* Chronic vomiting: These patients will also have low urine chloride levels
* Abuse of [[diuretic]] medications (water pills): The physician must screen urine for multiple diuretics before diagnosis is made.
* [[Magnesium deficiency (medicine)|Magnesium deficiency]]: These patients will also have low serum and urine magnesium
Patients with Bartter syndrome may also have elevated [[renin]] and [[aldosterone]] levels.<ref name=Bartter/>
Prenatal Bartter syndrome can be associated with [[polyhydramnios]].<ref name="pmid17228161">{{cite journal |author=Dane B, Yayla M, Dane C, Cetin A |title=Prenatal diagnosis of Bartter syndrome with biochemical examination of amniotic fluid: case report |journal=Fetal. Diagn. Ther. |volume=22 |issue=3 |pages=206–8 |year=2007 |pmid=17228161 |doi=10.1159/000098719 |url=http://content.karger.com/produktedb/produkte.asp?typ=fulltext&file=000098719}}</ref>
==Pathophysiology==
Bartter syndrome is caused by mutations of genes encoding proteins that transport ions across renal cells in the [[Thick ascending limb of loop of Henle|thick ascending limb]] of the nephron.<ref name="Rodriguez" />
Bartter and Gitelman syndromes can be divided into different subtypes based on the genes involved: <ref>{{cite journal | author=Naesens M, Steels P, Verberckmoes R, Vanrenterghem Y, Kuypers D | title=Bartter's and Gitelman's syndromes: from gene to clinic | journal=Nephron Physiol | year=2004 | pages=p65–78 | volume=96 | issue=3 | pmid=15056980 | doi=10.1159/000076752}}</ref>
{| class="wikitable"
| '''Name''' || '''Number''' || '''Associated gene mutations'''
|-
| neonatal Bartter's syndrome || types 1-2 || [[Na-K-2Cl symporter|NKCC2]] or [[ROMK]]
|-
| classic Bartter's syndrome || type 3 || [[CLCNKB]]
|-
| Bartter's syndrome with [[sensorineural deafness]] || type 4 || [[BSND]]<ref name="pmid16583241">{{cite journal |author=Zaffanello M, Taranta A, Palma A, Bettinelli A, Marseglia GL, Emma F |title=Type IV Bartter syndrome: report of two new cases |journal=Pediatr. Nephrol. |volume=21 |issue=6 |pages=766–70 |year=2006 |pmid=16583241 |doi=10.1007/s00467-006-0090-x}}</ref>
|-
| Bartter's syndrome associated with autosomal dominant hypocalcemia || type 5 || [[Calcium-sensing receptor|CASR]]<ref name="pmid17048213">{{cite journal |author=Vezzoli G, Arcidiacono T, Paloschi V, ''et al'' |title=Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome |journal=J. Nephrol. |volume=19 |issue=4 |pages=525–8 |year=2006 |pmid=17048213 |doi= |url=http://www.sin-italy.org/jnonline/Vol19n4/525.html |format={{Dead link|date=May 2008}}}}</ref>
|-
| Gitelman's syndrome || - || [[NCCT]]
|}
==Treatment==
While patients should be encouraged to include liberal amounts of sodium{{Fact|date=January 2008}} and potassium in their diet, potassium supplements are usually required, and [[spironolactone]] is also used to reduce potassium loss. <ref name="titleBartter Syndrome: Tubular and Cystic Kidney Disorders: Merck Manual Home Edition">{{cite web |url=http://www.merck.com/mmhe/sec11/ch146/ch146i.html |title=Bartter Syndrome: Tubular and Cystic Kidney Disorders: Merck Manual Home Edition |accessdate=2007-12-31 |format= |work=}}</ref>
[[Nonsteroidal antiinflammatory drugs]] (NSAIDs) can be used as well, and are particularly helpful in patients with neonatal Bartter's syndrome.
[[ACE inhibitor|Angiotensin-converting enzyme (ACE) inhibitors]] can also be used.
==Prognosis==
{{Expand-section|date=February 2007}}
The limited prognostic information available suggests that early diagnosis and appropriate treatment of infants and 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.
<!--==Epidemiology==
{{Expand-section|date=February 2007}}-->
==Related conditions==
* Bartter and [[Gitelman syndrome]]s are both characterized by hypokalemia, normal to low blood pressure, and hypochloremic metabolic alkalosis.<ref>{{cite journal | author=Gitelman HJ, Graham JB, Welt LG | title=A new familial disorder characterized by hypokalemia and hypomagnesemia | journal=Trans Assoc Am Physicians | year=1966 | pages=221–35 | volume=79 | pmid=5929460}} </ref>
==References==
{{Reflist|2}}
==External links==
* [http://www.barttersite.org The Bartter Site]
{{Endocrine pathology}}
[[Category:Nephrology]]
[[Category:Pediatrics]]
[[Category:Genetic disorders]]
[[Category:Channelopathy]]
[[de:Bartter-Syndrom]]
[[it:Sindrome di Bartter]]
[[hu:Bartter-szindróma]]
[[ja:バーター症候群]]
[[pl:Zespół Barttera]]