Marciano BE, Rosenzweig SD, Kleiner DE, et al. Pediatrics. 2004;114:462–468To evaluate the clinical presentation, prevalence, and consequences of gastrointestinal (GI) involvement in patients with chronic granulomatous disease (CGD).A registry of 140 patients with CGD (67% X-linked) maintained at the National Institutes of Health.This was a retrospective review of records from 1988–2002. GI involvement was defined as abdominal pain, diarrhea, constipation, obstruction or fistulas, and involvement of the esophagus, stomach, or bowel confirmed by endoscopy and/or histology. Other causes of GI involvement were excluded from analysis.Forty-six (33%) patients had documented GI involvement; 44 (96%) were male. Mean age of CGD diagnosis was 2 years (range: birth to 27 years), and median age of GI involvement was 5 years (range: 10 months to 30 years). Thirty-two (70%) patients experienced GI symptoms in the first decade of life, 9 (20%) in the second decade, and 5 (10%) in the third decade. In 8 (17%) patients, GI manifestations preceded the diagnosis of CGD. A high proportion (89%) of those with GI manifestations had X-linked inheritance. All patients experienced severe infections except for 2 kindred, who only experienced GI involvement. Mortality was equal in GI-affected and -unaffected groups and was a result of severe infection. Although all patients experienced abdominal pain, it was the primary presenting complaint in 33% of patients. Other symptoms included diarrhea (39%), nausea and vomiting (24%), and constipation (2%). Obstruction occurred in 35% of patients involving gastric, esophageal, duodenal, and other locations. Despite interferon γ prophylaxis in 89% of GI patients, there seemed to be no protection; 81% of unaffected patients had received similar prophylaxis. After endoscopic confirmation of GI granuloma, successful treatment was initiated by using prednisone (1 mg/kg per day with taper to ∼0.25 mg/kg every other day), but 71% experienced relapse. Two patients became hypertensive, and 1 developed cataracts. After bone marrow transplantation, 3 patients experienced remission of GI involvement.GI involvement in CGD is common and recurring, especially in those with X-linked inheritance. Interferon γ prophylaxis does not reduce involvement or affect mortality.Although CGD is a rare disorder, the pediatrician must be aware of the classic presentation involving infection of the skin, deep tissues, and bone and complications such as GI granuloma formation. This is especially true in those with X-linked disease. Abdominal pain or abdominal symptoms voiced by a child with CGD must be evaluated thoroughly and, when not infection-related, treated with corticosteroids (in some cases, long-term). Bone marrow transplantation can be effective in inducing remission of the disease including the GI manifestations.