|
|
| (19 intermediate revisions by 3 users not shown) |
| Line 1: |
Line 1: |
| | __NOTOC__ |
| {{Infobox_Disease | | | {{Infobox_Disease | |
| Name = Bartter syndrome | | | Name = Bartter syndrome | |
| Line 12: |
Line 13: |
| MeshID = D001477 | | | MeshID = D001477 | |
| }} | | }} |
| {{Search infobox}} | | {{Bartter syndrome}} |
| | |
| '''For patient information click [[{{PAGENAME}} (patient information)|here]]''' | | '''For patient information click [[{{PAGENAME}} (patient information)|here]]''' |
|
| |
|
| {{GS}} | | {{CMG}}; {{AE}} {{TAM}} |
|
| |
|
| ==Overview==
| | {{SK}} [[Bartter syndrome|Salt-wasting Renal Tubular Disorder]]; [[Bartter syndrome|Hyperprostaglandin E syndrome]]; [[Bartter syndrome|juxtaglomerular hyperplasia with secondary aldosteronism]]; [[Bartter syndrome|Barter disease]]; [[Bartter syndrome|Barter's disease]]; [[Bartter syndrome|Bartter disease]]; [[Bartter syndrome|Bartter's disease]] [[Hypokalemic Metabolic Alkalosis]] |
| '''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. The condition is named after Dr [[Frederic Bartter]], who first described it 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 | id=PMID 13969763}} 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>
| |
|
| |
|
| ==Features== | | ==[[Bartter syndrome overview|Overview]]== |
| In 90% of cases, '''neonatal Bartter syndrome''' is seen between 24 and 30 weeks of gestation with excess [[Amniotic sac|amnionic 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 stones. 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
| | ==[[Bartter syndrome historical perspective|Historical Perspective]]== |
| 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 | id=PMID 9655365}}</ref> but occasionally patients proceed to end-stage renal failure.
| | ==[[Barter Syndrome classification|Classification]]== |
| bartter's syndrome consists of hypokalaemia,alkalosis,normal blood pressues ,and elevated plasma renin and aldosterone.numerous causes of this syndrome probably exist.diagnostic pointers include hugh urinary potassium and chloride despite low serum values , increased plasma renin, hyperplasia of the juxtagloerular apparatus on renal biopsy, and careful exclusion of diuretic abuse .excess production of renal prostaglandins is oftenfound. magnesium wasting may also occur
| |
|
| |
|
| ==Diagnosis== | | ==[[Bartter syndrome pathophysiology|Pathophysiology]]== |
| 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:
| | ==[[Bartter syndrome causes|Causes]]== |
| * 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/>
| | ==[[Bartter syndrome differential diagnosis|Differentiating Bartter syndrome from other Diseases]]== |
|
| |
|
| ==Pathophysiology== | | ==[[Bartter syndrome epidemiology and demographics|Epidemiology and Demographics]]== |
| 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"> </ref> Bartter and Gitelman syndromes can be divided into different subtypes based on the genes involved: neonatal Bartter's syndrome is caused by mutations of [[Na-K-2Cl symporter|NKCC2]] or [[ROMK]], classic Bartter's syndrome by mutations of ClC-Kb, Bartter's syndrome associated with sensorineural deafness is due to mutations of BSND, Gitelman's syndrome to mutations of NCCT and Bartter's syndrome associated with autosomal dominant hypocalcemia is linked to mutations of CASR.<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 | id=PMID 15056980}}</ref>
| |
|
| |
|
| ==Treatment== | | ==[[Bartter syndrome risk factors|Risk Factors]]== |
| 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. [[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.
| | ==[[Bartter syndrome screening|Screening]]== |
|
| |
|
| ==Prognosis== | | ==[[Bartter syndrome natural history, complications and prognosis|Natural History, Complications and Prognosis]]== |
| 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== | | ==Diagnosis== |
| | [[Bartter syndrome history and symptoms|History and Symptoms]] | [[Bartter syndrome physical examination|Physical Examination]] | [[Bartter syndrome laboratory findings|Laboratory Findings]] | [[Bartter syndrome electrocardiogram|Electrocardiogram]] | [[Bartter syndrome x ray|X Ray]] | [[Bartter syndrome CT|CT]] | [[Bartter syndrome MRI|MRI]] | [[Bartter syndrome echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Bartter syndrome other imaging findings|Other Imaging Findings]] | [[Bartter syndrome other diagnostic studies|Other Diagnostic Studies]] |
|
| |
|
| ==History== | | ==Treatment== |
| Bartter syndrome was first described in an article by Bartter et al in 1962.<ref name=Bartter/> | | [[Bartter syndrome medical therapy|Medical Therapy]] | [[Bartter syndrome surgery|Surgery]] | [[Bartter syndrome future or investigational therapies|Future or Investigational Therapies]] | [[Primary Prevention]] | [[Secondary Prevention]] |
| | |
| ==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 | id=PMID 5929460}} </ref>
| |
| | |
| ==References==
| |
| {{Reflist|2}}
| |
| | |
| ==External links==
| |
| * [http://www.barttersite.org The Bartter Site]
| |
| * {{WhoNamedIt|synd|2328}}
| |
|
| |
|
| | ==Case Studies== |
| | [[Bartter syndrome case study one|Case #1]] |
|
| |
|
| {{Endocrine pathology}} | | {{Endocrine pathology}} |
| Line 70: |
Line 54: |
| [[Category:Channelopathy]] | | [[Category:Channelopathy]] |
| [[Category:Endocrinology]] | | [[Category:Endocrinology]] |
| | [[Category:Disease]] |
|
| |
|
| [[de:Bartter-Syndrom]] | | [[de:Bartter-Syndrom]] |