GENETIC COUNSELING, vol.24, no.3, pp.327-335, 2013 (SCI-Expanded)
The clinical features and genetic mutations of chronic granulomatous disease: results from a reference centre at middle Anatolia: Aim: Chronic granulomatous disease (CGD) is a rare innate immune deficiency with neutrophil function disorder. In this retrospective study, we aimed to evaluate the clinical features of the patients with CGD. Material and Method: We presented eight patients (6 boys, 2 girls) with CGD which were evaluated at Erciyes University Medical Faculty hospital between 1996 and 2012. The initial complaints, age at diagnosis, consanguinity of the parents, similar disease history or death of the siblings, physical examination, diagnostic tests, clinical courses, and genetic characteristics were analyzed. Results: The initial complaints were started before the age of one in four patients; whereas only two patients diagnosed before the first birth day. Lymphadenomegally, suppurative infections, pneumonia, diarrhea were the most noted initial complaints. All parents were consanguineous. The clinical features were mild; and the ages of diagnosis were late in patients with p47 and p67 defect. The patient with X linked CUD was diagnosed when he was 3 months old; his clinical course was complicated with chronic otitis media, zygomatic abscess, lung abscess, and facial paralysis. The patient with p22 defect was diagnosed at two months of age; and gastric wall granuloma, inflammation in proximal femur was detected. Conclusions: The awareness of the clinicians about CGD will result in early diagnosis and consequently reduce the mortality and morbidity of this disease.