Bartter syndrome causes

Jump to navigation Jump to search

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 causes On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Bartter syndrome causes

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 causes

CDC on Bartter syndrome causes

Bartter syndrome causes in the news

Blogs on Bartter syndrome causes

Directions to Hospitals Treating Bartter syndrome

Risk calculators and risk factors for Bartter syndrome causes

Main article: Bartter syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Tayyaba Ali, M.D.[2]

Overview

Bartter syndrome can be caused by mutations in at least five genes. Mutations in the SLC12A1 gene cause type I. Type II results from mutations in the KCNJ1 gene. Mutations in the CLCNKB gene are responsible for type III. Type IV can result from mutations in the BSND gene or from a combination of mutations in the CLCNKA and CLCNKB genes as shown in the table. Aminoglycoside can induce Bartter syndrome presenting with severe hypokalemia, metabolic alkalosis, and profound systemic manifestations.

Causes

  • Bartter syndrome can be caused by mutations in at least five genes.
  • Mutations in the SLC12A1 gene cause type I. Type II results from mutations in the KCNJ1 gene. Mutations in the CLCNKB gene are responsible for type III. Type IV can result from mutations in the BSND gene or from a combination of mutations in the CLCNKA and CLCNKB genes as shown in the table.
  • The genes associated with Bartter syndrome play important roles in normal kidney function. The proteins produced from these genes are involved in the kidneys' reabsorption of salt.
  • Mutations in any of the five genes impair the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). Abnormalities of salt transport also affect the reabsorption of other charged atoms (ions), including potassium and calcium. The resulting imbalance of ions in the body leads to the major features of Bartter syndrome.[1]
Classification of Bartter syndrome on the basis of both genotype and phenotype[2][3]
Disorder Gene affected Gene product Clinical presentation (phenotype)
Bartter syndrome type I SLC12A1 NKCC2 Antenatal Bartter syndrome (hyperprostaglandin E syndrome)
Bartter syndrome type II KCNJ1 ROMK Antenatal Bartter syndrome
Bartter syndrome type III ClC-Kb CLC-Kb Hypochloremia, mild hypomagnesemia, failure to thrive in infancy
Bartter syndrome type IVA BSND Barttin (B-subunit of CLC-Ka and CLC-Kb) Antenatal Bartter syndrome (hyperprostaglandin E syndrome) and sensorineural deafness
Bartter syndrome type IVB ClC-Ka and ClC-Kb CLC-Ka and CLC-Kb Antenatal Bartter syndrome (hyperprostaglandin E syndrome) and sensorineural deafness
Bartter syndrome type V CaSR gene CaSR Bartter syndrome with hypocalcemia


References

  1. 1.0 1.1 "Bartter syndrome - Genetics Home Reference - NIH".
  2. Seyberth HW (2008). "An improved terminology and classification of Bartter-like syndromes". Nat Clin Pract Nephrol. 4 (10): 560–7. doi:10.1038/ncpneph0912. PMID 18695706.
  3. Al Shibli A, Narchi H (2015). "Bartter and Gitelman syndromes: Spectrum of clinical manifestations caused by different mutations". World J Methodol. 5 (2): 55–61. doi:10.5662/wjm.v5.i2.55. PMC 4482822. PMID 26140272.
  4. McLarnon S, Holden D, Ward D, Jones M, Elliott A, Riccardi D (2002). "Aminoglycoside antibiotics induce pH-sensitive activation of the calcium-sensing receptor". Biochem Biophys Res Commun. 297 (1): 71–7. doi:10.1016/s0006-291x(02)02133-2. PMID 12220510.


Template:WikiDoc Sources