Chronic granulomatous disease : King Hussein medical center experience

الملخص EN

Objective: To describe a single center experience of a rare disease, with special emphasis on clinical presentation, treatment options and prognosis. Methods: We retrospectively reviewed the files of 12 patients discharged with the diagnosis of chronic granulomatous disease between July 1997 and June 2004 in the pediatric immunology clinic at King Hussein Medical Center. Results: Twelve patients, seven males, and five females were identified.

They aged between 13-84 months with a mean age of 29 months at the time of diagnosis.

The median duration of follow-up was 33 months.

Eight patients were alive and four had died.

Family history of Chronic granulomatous disease was positive in 10 patients.

The median duration of delay in diagnosis was 27 months.

Two patients had Aspergillus chest infection; one tuberculosis meningitis and two had multiple liver abscesses.

A microorganism isolates included Aspergillus species, Salmonella, Staphylococcal aureus, and Pseudomonas aeruginosa.

None of our patients had non-infectious complications.

All patients were failing to thrive at the time of diagnosis.

Most of them achieved acceptable growth after 24 months of treatment.

All patients received Trimethoprium-sulphamethoxazole and Itraconazole.

None of our patients underwent bone marrow transplant.

The duration of hospital admission was significantly decreased after treatment from a median of 19 weeks before to two weeks after treatment. Conclusion: Awareness of general pediatricians toward early diagnosis was suboptimal.

Every effort should be made to improve the laboratory diagnosis by using more specific tests.

Anti-microbial prophylaxis improved the prognosis of chronic granulomatous disease significantly.

Interferon-y and bone marrow transplant should be considered for the patients with poor response to daily antimicrobial prophylaxis.