Pediatric Bartter Syndrome Treatment & Management

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

Medical Care

Care for patients with Bartter syndrome involves the following:

  • Neonatal Bartter syndrome
    • Correct dehydration and electrolyte abnormalities immediately after birth.
    • The cornerstones of medical therapy are the administration of indomethacin and potassium supplementation.
  • Classic Bartter syndrome
    • Supplementation with potassium chloride is always necessary but often insufficient.
    • The addition of a potassium-sparing diuretic may be effective initially, but the effect is transient.
    • Correction of hypokalemia is best achieved with prostaglandin synthetase inhibitors, such as indomethacin, acetylsalicylic acid, ibuprofen, or ketoprofen. Indomethacin is prescribed most frequently and is usually well tolerated.
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Surgical Care

One approach involves preemptive nephrectomy and renal transplantation in children with severe Bartter syndrome.[11] The rationale for this approach lies in the fact that Bartter syndrome is an incurable genetic disease, and the poorly controlled forms may result in frequent life-threatening episodes of dehydration and electrolyte imbalances. Preemptive bilateral nephrectomies and successful kidney transplantation prior to the onset of end-stage renal disease (ESRD) has resulted in correction of metabolic abnormalities and excellent graft function.

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Consultations

Consult a pediatric nephrologist to assist with the initial diagnosis and for periodic outpatient evaluation of growth, development, renal function, serum electrolytes, and response to therapy.

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Diet

Patients should consume foods and drinks that contain high levels of potassium (eg, tomatoes, bananas, orange juice).

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Activity

No restriction on general activity is required, but precautions against dehydration should be taken. Patients should avoid strenuous exercise avoided because of the danger of dehydration and functional cardiac abnormalities secondary to potassium imbalance.

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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

  1. Lin SH, Yang SS, Chau T. A practical approach to genetic hypokalemia. Electrolyte Blood Press. Jun 2010;8(1):38-50. [Medline]. [Full Text].

  2. Deschênes G, Fila M. Primary molecular disorders and secondary biological adaptations in bartter syndrome. Int J Nephrol. 2011;2011:396209. [Medline]. [Full Text].

  3. Janssen AG, Scholl U, Domeyer C, et al. Disease-Causing Dysfunctions of Barttin in Bartter Syndrome Type IV. J Am Soc Nephrol. Sep 5 2008;[Medline].

  4. Kitanaka S, Sato U, Maruyama K, Igarashi T. A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV. Pediatr Nephrol. Feb 2006;21(2):190-3. [Medline].

  5. Zaffanello M, Taranta A, Palma A, et al. Type IV Bartter syndrome: report of two new cases. Pediatr Nephrol. Jun 2006;21(6):766-70. [Medline].

  6. Birkenhager R, Otto E, Schurmann MJ, et al. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet. Nov 2001;29(3):310-4. [Medline].

  7. Garcia-Nieto V, Flores C, Luis-Yanes MI, et al. Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families. Pediatr Nephrol. May 2006;21(5):643-8. [Medline].

  8. Kramer BK, Bergler T, Stoelcker B, Waldegger S. Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance. Nat Clin Pract Nephrol. Jan 2008;4(1):38-46. [Medline].

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

  10. Walsh SB, Unwin E, Vargas-Poussou R, Houillier P, Unwin R. Does hypokalaemia cause nephropathy? an observational study of renal function in patients with Bartter or Gitelman syndrome. QJM. Nov 2011;104(11):939-44. [Medline].

  11. Chaudhuri A, Salvatierra O Jr, Alexander SR, Sarwal MM. Option of pre-emptive nephrectomy and renal transplantation for Bartter's syndrome. Pediatr Transplant. Mar 2006;10(2):266-70. [Medline].

  12. Bichet DG, Fujiwara TM. Reabsorption of sodium chloride--lessons from the chloride channels. N Engl J Med. Mar 25 2004;350(13):1281-3. [Medline].

  13. Estevez R, Boettger T, Stein V, et al. Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. Nature. Nov 29 2001;414(6863):558-61. [Medline].

  14. Hebert SC. Bartter syndrome. Curr Opin Nephrol Hypertens. Sep 2003;12(5):527-32. [Medline].

  15. Miyamura N, Matsumoto K, Taguchi T, et al. Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin. J Clin Endocrinol Metab. Feb 2003;88(2):781-6. [Medline]. [Full Text].

  16. Rodriguez-Soriano J, Vallo A, Aguirre M. Bone mineral density and bone turnover in patients with Bartter syndrome. Pediatr Nephrol. Aug 2005;20(8):1120-5. [Medline].

  17. Rodriguez-Soriano J, Vallo A, Perez de Nanclares G, et al. A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain. Pediatr Nephrol. Jul 2005;20(7):891-6. [Medline].

  18. Scheinman SJ, Guay-Woodford LM, Thakker RV, Warnock DG. Genetic disorders of renal electrolyte transport. N Engl J Med. Apr 15 1999;340(15):1177-87. [Medline].

  19. Schlingmann KP, Konrad M, Jeck N, et al. Salt wasting and deafness resulting from mutations in two chloride channels. N Engl J Med. Mar 25 2004;350(13):1314-9. [Medline].

  20. Shalev H, Ohali M, Kachko L, Landau D. The neonatal variant of Bartter syndrome and deafness: preservation of renal function. Pediatrics. Sep 2003;112(3 Pt 1):628-33. [Medline]. [Full Text].

  21. Starremans PG, Kersten FF, Knoers NV, et al. Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters. J Am Soc Nephrol. Jun 2003;14(6):1419-26. [Medline]. [Full Text].

  22. Vaisbich MH, Fujimura MD, Koch VH. Bartter syndrome: benefits and side effects of long-term treatment. Pediatr Nephrol. Aug 2004;19(8):858-63. [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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