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Cystic fibrosis presenting as diabetes insipidus unresponsive to desmopressin

S Vande Velde1, S Van Biervliet, E Robberecht

  • 1Cystic fibrosis centre, Ghent university Hospital, Ghent, Belgium.

Acta Gastro-Enterologica Belgica
|December 14, 2007
PubMed

Insights

Diagnosing cystic fibrosis (CF) can be challenging with atypical symptoms. Early recognition of CF, even with unusual signs like polyuria in infants, is crucial for timely treatment.

Area of Science:

  • Pediatrics
  • Medical Diagnostics
  • Genetics

Background:

  • Cystic Fibrosis (CF) diagnosis often relies on characteristic symptoms like chronic pulmonary issues or meconium ileus.
  • Atypical presentations of CF can delay diagnosis, complicating patient management.
  • Understanding the full spectrum of CF symptoms is vital for pediatricians and gastroenterologists.

Observation:

  • This case report highlights a diagnostic delay caused by misleading, atypical CF symptoms.
  • Atypical signs included hypochloremic alkalosis, recurrent pancreatitis, and increased appetite.
  • The importance of observing infant napkins for subtle clues was emphasized.

Findings:

  • Delayed diagnosis of CF occurred due to reliance on typical symptom presentation.
  • Atypical symptoms can obscure the diagnosis, necessitating a broader differential.
  • Polyuria in infants was identified as a potential, overlooked indicator of CF.

Implications:

  • The case underscores the need to consider CF in infants presenting with polyuria.
  • Broadening the differential diagnosis for atypical symptoms can improve early CF detection.
  • Timely diagnosis of CF is essential for effective management and improved patient outcomes.

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