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Clinical profile of cystic fibrosis. Atypical presentation

Abdelhamid S Najada1, Muna M Dahabreh

  • 1Department of Pediatrics, King Hussein Medical Center, PO Box 855019, Amman 11855, Jordan. a_najada@hotmail.com

Saudi Medical Journal
|February 23, 2010
PubMed

Insights

Cystic fibrosis presents unusually in some children, with rare symptoms like pulmonary hypertension and metabolic alkalosis. Early diagnosis through neonatal screening can improve outcomes for this genetic disorder.

Area of Science:

  • Pediatrics
  • Genetics
  • Pulmonology

Background:

  • Cystic fibrosis (CF) is a genetic disorder with diverse clinical manifestations.
  • Classical CF diagnosis often involves respiratory and digestive symptoms.
  • Unusual presentations can delay diagnosis and treatment.

Purpose of the Study:

  • To document and analyze atypical clinical presentations of cystic fibrosis in pediatric patients.
  • To highlight the spectrum of CF symptoms beyond typical respiratory and gastrointestinal issues.

Main Methods:

  • Retrospective review of 90 pediatric patients diagnosed with classical cystic fibrosis.
  • Inclusion criteria: age 1 day to 14 years, diagnosed between 2002-2008.
  • Data collected: age at presentation/diagnosis, clinical features, family history, lab results, sweat chloride, and radiology.

Main Results:

  • Recurrent wheezy chest was the most common initial symptom (24%).
  • Direct hyperbilirubinemia was the least common (3%).
  • Seven patients (8%) exhibited unusual presentations including pulmonary hypertension, metabolic alkalosis, severe iron deficiency anemia, and ichthyotic skin lesions.

Conclusions:

  • The varied clinical spectrum of cystic fibrosis underscores the importance of recognizing atypical signs.
  • National neonatal screening programs are crucial for early detection and reducing disease burden.
Abstract

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