Pediatric Diabetes Insipidus Clinical Presentation

  • Author: James CM Chan, MD; Chief Editor: Stephen Kemp, MD, PhD   more...
 
Updated: Jul 25, 2011
 

History

Diagnosis of diabetes insipidus (DI) may be difficult in infants and children because of nonspecific presenting features (eg, poor feeding, failure to thrive, irritability). Accordingly, a high index of suspicion is necessary.

The earliest signs of DI include a vigorous suck with vomiting, fever without apparent cause, constipation, and excessively wet diapers from urination. In older infants and young children, irritability is generally due to a borderline state of dehydration coupled with hypernatremia and, sometimes, fever. Nocturia is common and expected because of increased urine production. Central DI tends to develop suddenly.

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Physical Examination

The typical examination reveals an irritable infant with a dripping wet diaper, along with detectable signs of dehydration (eg, dry mucous membranes, diminished skin turgor, decreased tearing, tachycardia). Often, skin turgor is not diminished in individuals with hypernatremic dehydration despite significant dehydration. In severely dehydrated patients, the pulse may be thready and rapid. Hypotension may be present because of hypovolemic shock. Mobile fecaliths may be palpable in the abdomen.

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Complications

Complications include the following:

  • Growth failure
  • Nocturia and enuresis
  • Hypernatremic dehydration
  • Seizures
  • Mental retardation

Dehydration results from an inability to reabsorb free water at a site distal to electrolyte reabsorption. Any patient unable to continuously replace water loss is vulnerable to dehydration, especially in warm weather when insensible water loss through perspiration and respiration substantially increases risk.

Electrolyte abnormalities are caused by the loss of urinary free water, which produces hyperosmolar dehydration, leading to hypernatremia, hyperchloremia, and prerenal azotemia. Diminished blood volume increases blood viscosity and the risk of sludging and thrombosis.

Failure to thrive occurs because of the patient’s constant thirst conferring a sense of fullness that offsets the sense of hunger. The affected individual eats less than necessary for normal growth.

Seizures are a consequence of the electrolyte abnormalities introduced in the central nervous system (CNS) by severe hypernatremia and hyperosmolar dehydration. Mental retardation results from the damage to the CNS caused by severe hyperosmolarity, seizures, and potential hypoxia, all of which are thought to account for the frequent occurrence of mental retardation. Death can occur from a hypovolemic shock or a hypernatremic seizure.

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Contributor Information and Disclosures
Author

James CM Chan, MD  Professor of Pediatrics, Tufts University School of Medicine; Director of Research, The Barbara Bush Children's Hospital, Maine Medical Center

James CM Chan, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Pediatric Society, American Physiological Society, American Society of Nephrology, American Society of Pediatric Nephrology, and International Society of Nephrology

Disclosure: Nothing to disclose.

Coauthor(s)

Karl S Roth, MD  Professor and Chair, Department of Pediatrics, Creighton University School of Medicine

Karl S Roth, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Nutrition, American Pediatric Society, American Society for Clinical Nutrition, American Society of Nephrology, Association of American Medical Colleges, Medical Society of Virginia, New York Academy of Sciences, Sigma Xi, Society for Pediatric Research, and Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Specialty Editor Board

Thomas A Wilson, MD  Professor of Clinical Pediatrics, Chief and Program Director, Division of Pediatric Endocrinology, Department of Pediatrics, The School of Medicine at Stony Brook University Medical Center

Thomas A Wilson, MD is a member of the following medical societies: Endocrine Society, Pediatric Endocrine Society, and Phi Beta Kappa

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.

George P Chrousos, MD, FAAP, MACP, MACE, FRCP(London)  Professor and Chair, First Department of Pediatrics, Athens University Medical School, Aghia Sophia Children's Hospital, Greece; UNESCO Chair on Adolescent Health Care, University of Athens, Greece

George P Chrousos, MD, FAAP, MACP, MACE, FRCP(London) is a member of the following medical societies: American Academy of Pediatrics, American College of Endocrinology, American College of Physicians, American Pediatric Society, American Society for Clinical Investigation, Association of American Physicians, Endocrine Society, Pediatric Endocrine Society, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Chief Editor

Stephen Kemp, MD, PhD  Professor, Department of Pediatrics, Section of Pediatric Endocrinology, University of Arkansas for Medical Sciences College of Medicine, Arkansas Children's Hospital

Stephen Kemp, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, American Pediatric Society, Endocrine Society, Phi Beta Kappa, Southern Medical Association, and Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

References
  1. Satoh M, Ogikubo S, Yoshizawa-Ogasawara A. Correlation between clinical phenotypes and X-inactivation patterns in six female carriers with heterozygote vasopressin type 2 receptor gene mutations. Endocr J. 2008;55:277-284. [Full Text].

  2. Friedman E, Bale AE, Carson E, et al. Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal. Proc Natl Acad Sci U S A. Aug 30 1994;91(18):8457-61. [Medline]. [Full Text].

  3. Mulders SM, Bichet DG, Rijss JP, et al. An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex. J Clin Invest. Jul 1 1998;102(1):57-66. [Medline]. [Full Text].

  4. Davies JH, Penney M, Abbes AP, et al. Clinical features, diagnosis and molecular studies of familial central diabetes insipidus. Horm Res. 2005;64(5):231-7. [Medline].

  5. Garofeanu CG, Weir M, Rosas-Arellano MP, et al. Causes of reversible nephrogenic diabetes insipidus: a systematic review. Am J Kidney Dis. Apr 2005;45(4):626-37.

  6. Wildin RS, Antush MJ, Bennett RL. Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus. Am J Hum Genet. Aug 1994;55(2):266-77. [Medline].

  7. Faerch M, Christensen JH, Corydon TJ, et al. Partial nephrogenic diabetes insipidus caused by a novel mutation in the AVPR2 gene. Clin Endocrinol (Oxf). Mar 2008;68(3):395-403. [Medline].

  8. [Guideline] Seidenwurm DJ, Wippold FJ II, Cornelius RS, et al. Expert Panel on Neurologic Imaging. ACR Appropriateness Criteria neuroendocrine imaging. [online publication]. Reston (VA): American College of Radiology (ACR); 2008. 11 p.

  9. Boussemart T, Nsota J, Martin-Coignard D, Champion G. Nephrogenic diabetes insipidus: treat with caution. Pediatr Nephrol. Sep 2009;24(9):1761-3. [Medline].

  10. Alon U, Chan JC. Hydrochlorothiazide-amiloride in the treatment of congenital nephrogenic diabetes insipidus. Am J Nephrol. 1985;5(1):9-13. [Medline].

  11. Saborio P, Tipton GA, Chan JC. Diabetes insipidus. Pediatr Rev. Apr 2000;21(4):122-9; quiz 129. [Medline].

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