Pediatric Bartter Syndrome Follow-up

  • Author: Prasad Devarajan, MD; Chief Editor: Craig B Langman, MD   more...
 
Updated: Nov 14, 2011
 

Further Outpatient Care

  • Growth, development, renal function, and serum electrolytes should be evaluated periodically, ideally in a pediatric nephrology clinic. Cases of coexisting growth hormone deficiency that respond to growth hormone therapy with catch-up growth have been reported.
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Complications

  • Cardiac arrhythmia and sudden death may result from electrolyte imbalances.
  • Failure to thrive, growth retardation, and developmental delay are common in untreated patients.
  • Chronic hypokalemia results in slow progression to chronic renal insufficiency.
  • A significant decrease in bone mineral density has been documented in patients with both neonatal and classic forms.
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Prognosis

  • The effects of prostaglandin synthetase inhibition include an increase in the plasma potassium concentration (however, this rarely exceeds 3.5 mEq/L), a decrease in the magnitude of polyuria, and improved general well being.
  • With treatment, plasma renin and aldosterone levels normalize.
  • Therapy improves the patient's clinical condition and allows catch-up growth.
  • Bone age is usually appropriate for chronological age, and pubertal and intellectual development are normal with treatment.
  • The effectiveness of long-term use of prostaglandin synthetase inhibitors is well established. Some patients may experience a recurrence of hypokalemia, which can be managed by adjusting the indomethacin dose or with potassium supplementation.
  • The disease does not recur in the patient with a transplanted kidney.
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Patient Education

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Contributor Information and Disclosures
Author

Prasad Devarajan, MD  Louise M Williams Endowed Chair in Pediatrics, Professor of Pediatrics and Developmental Biology, Director of Nephrology and Hypertension, Director of Clinical Nephrology Laboratories, CEO of Dialysis Unit, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine

Prasad Devarajan, MD is a member of the following medical societies: American Heart Association, American Society of Nephrology, American Society of Pediatric Nephrology, National Kidney Foundation, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Specialty Editor Board

Uri S Alon, MD  Director of Bone and Mineral Disorders Clinic and Renal Research Laboratory, Children's Mercy Hospital of Kansas City; Professor, Department of Pediatrics, Division of Pediatric Nephrology, University of Missouri-Kansas City School of Medicine

Uri S Alon, MD is a member of the following medical societies: American Federation for Medical Research

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Adrian Spitzer, MD  Clinical Professor Emeritus, Department of Pediatrics, Albert Einstein College of Medicine

Adrian Spitzer, MD is a member of the following medical societies: American Academy of Pediatrics, American Federation for Medical Research, American Pediatric Society, American Society of Nephrology, American Society of Pediatric Nephrology, International Society of Nephrology, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Howard Trachtman, MD  Program Director, Pediatrics Research, Schneider Children's Hospital, Department of Pediatrics, Division of Nephrology, Professor, Albert Einstein College of Medicine

Howard Trachtman, MD is a member of the following medical societies: American Society of Hypertension, American Society of Nephrology, American Society of Pediatric Nephrology, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Chief Editor

Craig B Langman, MD  The Isaac A Abt, MD, Professor of Kidney Diseases, Northwestern University, The Feinberg School of Medicine; Division Head of Kidney Diseases, Children's Memorial Hospital

Craig B Langman, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Nephrology, and International Society of Nephrology

Disclosure: NIH Grant/research funds None; Raptor Pharmaceuticals, Inc Grant/research funds None; Alexion Pharmaceuticals, Inc. Grant/research funds None

Additional Contributors

The authors and editors of eMedicine gratefully acknowledge the contributions of previous author Abubakr Imam, MD, to the development and writing of the initial version of this article.

References

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  9. Seyberth HW. An improved terminology and classification of Bartter-like syndromes. Nat Clin Pract Nephrol. Aug 2008;[Medline].

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Normal transport mechanisms in the thick ascending limb of the loop of Henle. Reabsorption of sodium chloride is achieved with the sodium-chloride potassium-chloride cotransporter, which is driven by the low intracellular concentrations of sodium, chloride, and potassium. Low concentrations are maintained by the basolateral sodium pump (sodium-potassium adenosine triphosphatase), basolateral chloride channel (ClC-kb), and apical potassium channel (ROMK).
Type I neonatal Bartter syndrome. Mutations in the sodium-chloride potassium-chloride cotransporter gene result in defective reabsorption of sodium, chloride, and potassium.
Type II neonatal Bartter syndrome. Mutations in the ROMK gene result in an inability to recycle potassium from the cell back into the tubular lumen, with resultant inhibition of the sodium-chloride potassium-chloride cotransporter.
Classic Bartter syndrome. Mutations in the ClC-kb chloride channel lead to an inability of chloride to exit the cell, with resultant inhibition of the sodium-chloride potassium-chloride cotransporter.
Table. Bartter Syndrome Genotype-Phenotype Correlations
Bartter Syndrome Genotype-Phenotype Correlations
Genetic Type Defective Gene Clinical Type
Bartter type INKCC2Neonatal
Bartter type IIROMKNeonatal
Bartter type IIICLCNKBClassic
Bartter type IVBSNDNeonatal with deafness
Bartter type VCLCNKB and CLCNKANeonatal with deafness
Gitelman syndromeNCCTGitelman syndrome
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