Bartter syndrome pathophysiology: Difference between revisions

Jump to navigation Jump to search
(Created page with "__NOTOC__ {{Bartter syndrome}} Please help WikiDoc by adding content here. It's easy! Click here to learn about editing. ==References== {{Refli...")
 
No edit summary
Line 1: Line 1:
__NOTOC__
__NOTOC__
{{Bartter syndrome}}
{{Bartter syndrome}}
Please help WikiDoc by adding content here. It's easy!  Click  [[Help:How_to_Edit_a_Page|here]] to learn about editing.
{{CMG}}
==Overview==
==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"> </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>
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}

Revision as of 18:56, 28 September 2012

Bartter syndrome Microchapters

Home

Patient Information

Overview

Historical Perspective

Pathophysiology

Causes

Differentiating Bartter syndrome from other Diseases

Epidemiology and Demographics

Risk Factors

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Bartter syndrome pathophysiology On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Bartter syndrome pathophysiology

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Bartter syndrome pathophysiology

CDC on Bartter syndrome pathophysiology

Bartter syndrome pathophysiology in the news

Blogs on Bartter syndrome pathophysiology

Directions to Hospitals Treating Bartter syndrome

Risk calculators and risk factors for Bartter syndrome pathophysiology

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Pathophysiology

Bartter syndrome is caused by mutations of genes encoding proteins that transport ions across renal cells in the thick ascending limb of the nephron.[1] Bartter and Gitelman syndromes can be divided into different subtypes based on the genes involved: neonatal Bartter's syndrome is caused by mutations of 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.[2]

References

  1. Naesens M, Steels P, Verberckmoes R, Vanrenterghem Y, Kuypers D (2004). "Bartter's and Gitelman's syndromes: from gene to clinic". Nephron Physiol. 96 (3): p65–78. PMID 15056980.


Template:WikiDoc Sources