Hypochloremic Alkalosis Differential Diagnoses

  • Author: Abbas AlAbbad, MD; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Mar 30, 2012
 
 

Differential Diagnoses

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Contributor Information and Disclosures
Author

Abbas AlAbbad, MD  Consultant Pediatric Nephrologist, Section of Pediatric Nephrology, Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

Abbas AlAbbad, MD is a member of the following medical societies: American Academy of Pediatrics, International Pediatric Transplant Association, and International Society for Peritoneal Dialysis

Disclosure: Nothing to disclose.

Coauthor(s)

Robert J Ferry Jr, MD  Le Bonheur Chair of Excellence in Endocrinology, Professor and Chief, Division of Pediatric Endocrinology and Metabolism, Department of Pediatrics, University of Tennessee Health Science Center

Robert J Ferry Jr, MD is a member of the following medical societies: American Academy of Pediatrics, American Diabetes Association, American Medical Association, Endocrine Society, Pediatric Endocrine Society, Society for Pediatric Research, and Texas Pediatric Society

Disclosure: Eli Lilly & Co Grant/research funds Investigator; MacroGenics, Inc Grant/research funds Investigator; Ipsen, SA (formerly Tercica, Inc) Grant/research funds Investigator; NovoNordisk SA Grant/research funds Investigator; Diamyd Grant/research funds Investigator; Bristol-Myers-Squibb Grant/research funds Other; Amylin Other; Pfizer Grant/research funds Other; Takeda Grant/research funds Other

Specialty Editor Board

Christian J Renner, MD  Consulting Staff, Department of Pediatrics, University Hospital for Children and Adolescents, Erlangen, Germany

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.

Leonard G Feld, MD, PhD, MMM, FAAP  Sara H Bissell and Howard C Bissell Endowed Chair in Pediatrics, Chief Medical Officer, Levine Children's Hospital, Carolinas Medical Center

Leonard G Feld, MD, PhD, MMM, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Physician Executives, American Society of Nephrology, American Society of Pediatric Nephrology, International Society of Nephrology, and Juvenile Diabetes Foundation International

Disclosure: Nothing to disclose.

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

Additional Contributors

The author would like to thank Gloria Matthews (University of Texas Health Science Center at San Antonio Pediatrics) for her expert assistance with grants administration.

The authors and editors of eMedicine gratefully acknowledge the contributions of previous author, Pinar Ozand, MD, PhD, to the development and writing of this article.

References

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  2. Al-Abbad A, Nazer H, Sanjad SA, Al-Sabban E. Congenital chloride diarrhea: A single center experience with ten patients. Ann Saudi Med. Sep 1995;15(5):466-9. [Medline].

  3. [Guideline] Grosse SD, Boyle CA, Botkin JR, et al. Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR Recomm Rep. Oct 15 2004;53:1-36. [Medline].

  4. Aranzamendi RJ, Breitman F, Asciutto C, Delgado N, Castanos C. [Dehydration and metabolic alkalosis: an unusual presentation of cystic fibrosis in an infant]. Arch Argent Pediatr. Oct 2008;106(5):443-6. [Medline].

  5. Naesens M, Steels P, Verberckmoes R. Bartter's and Gitelman's syndromes: from gene to clinic. Nephron Physiol. 2004;96(3):p65-78. [Medline].

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  7. Hoglund P, Haila S, Socha J, et al. Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nat Genet. Nov 1996;14(3):316-9. [Medline].

  8. Makela S, Kere J, Holmberg C. SLC26A3 mutations in congenital chloride diarrhea. Hum Mutat. Dec 2002;20(6):425-38. [Medline].

  9. Simon DB, Bindra RS, Mansfield TA, et al. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet. Oct 1997;17(2):171-8. [Medline].

  10. Hanna JD, Scheinman JI, Chan JC. The kidney in acid-base balance. Pediatr Clin North Am. Dec 1995;42(6):1365-95. [Medline].

  11. Jacobson HR. Chloride-responsive metabolic alkalosis. In: Seldin DW, Gieb G, eds. The Regulation of Acid-Base Balance. Lippincott-Raven; 1989:431-57.

  12. Rose BD. Causes of metabolic alkalosis. UpToDate. Available at http://www.uptodate.com/.

  13. Rose BD. Treatment of metabolic alkalosis. UpToDate. Available at http://www.uptodate.com/.

  14. Rose BD. Urine electrolytes in diagnosis of metabolic alkalosis. UpToDate. Available at http://www.uptodate.com/.

  15. Simon DB, Karet FE, Hamdan JM, et al. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet. Jun 1996;13(2):183-8. [Medline].

  16. Wang J, Cortina G, Wu SV, et al. Mutant neurogenin-3 in congenital malabsorptive diarrhea. N Engl J Med. Jul 20 2006;355(3):270-80. [Medline].

 
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Infant with severe metabolic alkalosis resulting from congenital chloride-losing diarrhea.
Watery stool from an infant with congenital chloride-losing diarrhea. Chloride level was 205 mmol/L.
Renal ultrasonograph of an infant with congenital chloride-losing diarrhea showing diffuse sclerosis.
Severe nephrocalcinosis in a 2-year-old child with Bartter syndrome.
Visible bowel loops in an infant with congenital chloride-losing diarrhea.
 
 
 
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