Clinical presentation, genotype and microbiological data among cystic fibrosis children at King Hussein Medical Center

Abstract EN

-To describe the clinical presentations, genotype, microbiological data among children with cystic fibrosis treated at King Hussein Medical Center.

Methods: A retrospective review of all the medical records of children (80) already diagnosed with Cystic fibrosis was conducted during the period 2002-2008 at King Hussein Medical Center.

Clinical data collected included: age at presentation and diagnosis, clinical manifestation, delay in diagnosis, and family history.

Laboratory tests that were done included: complete blood count, kidney and liver function tests, sweat chloride and genetic testing.

PCR testing was performed for 36 mutations of cystic fibrosis.

Those with borderline sweat chloride reading or atypical presentation were excluded.

Results: The study group consisted of 46 (57%) males and 34 (43%) females with classic cystic fibrosis.

Age ranged from one month to 16 years of age with a median of eight months.

Most of the patients presented between one and six months of age (35%) with the majority being in neonatal period (24%).

Only 13% presented after the age of two years.

Most common presentation was recurrent wheezy chest (28%), while the least common was direct hyperbilirubinemia (2%).

A delay in diagnosis more than six months was seen in 18 patients (26%).

Twenty-one children (26%) had positive family history of Cystic Fibrosis, while 12 (15%) gave a history of male infertility in the family.

Sputum cultures were positive in 24 patients; Pseudomonas Aureginosa was the most commonly found (24%).

Cystic Fibrosis mutations were found in 25 patients (31%); Delta F508 mutation was the commonest 4%.

Three patients died (4%); one with respiratory failure and severe pulmonary hypertension, two with severe fatal sepsis.

Conclusion: There are diverse clinical presentations and genotypic features among our study group.

A complete analysis of the DNA mutation would be helpful in knowing the most prevalent mutations in our population.