Gastrointestinal (GI) Involvement in Iranian Patients with Chronic Granulomatous Disease (CGD)

Abstract

RATIONALE: The objective of the study was to determine the clinical manifestations, prevalence, and consequences of GI involvement in Iranian patients with CGD. METHODS: Medical records of 57 patients (38 males and 19 females) with CGD (confirmed by nitroblue tetrazolium reduction), referred to three immunodeficiency referral centres during a 24-year period (1980-2004), were studied and abstracted for GI manifestations. RESULTS: The median age at the time of study was 14.5 years old (1 - 56 years). The median age of the first sign or symptom was 5 months (1 month - 13.75 years), and that of diagnosis was 5 years (2 months - 54.1 years), with a diagnostic delay of 33 months, on average. Twenty-four cases (42.1%) had been complicated by gastrointestinal manifestations during their course of the disease. Of those, 12 (21.1%) had diarrhea, 7 (12.3%) had oral candidiasis, 5 (8.8%) had hepatitis, 4 (7.0%) had hepatic abscess, and 2 (3.5%) had gastric outlet obstruction. Also, growth delay was detected in 6 patients (10.5%). The median age of first GI manifestation was 2 years (1 year - 12 years). In 12 patients (21.0%), GI presentations were the first manifestation of CGD. Although, the majority of GI involvement episodes were controlled by antibiotic and steroid therapy, in 83% of cases, relapse of complications were reported.Among four patients who died (7.0%), no one was reported due to GI complications. CONCLUSIONS: GI involvement is a common and recurring problem in CGD and should be considered in CGD patients with diarrhea, abdominal pain or failure to thrive.