Introduction:

Chronic granulomatous disease (CGD) is caused by a defect in one of the subunits of nicotinamide phosphate (NADPH) oxidase, producing a failure in the production of superoxide in phagocytes. As a result, patients have recurrent bacterial and fungal infections.

Objectives:

to analyze the clinical characteristics, infectious manifestations, the isolated microorganisms, as well as the evolution of patients that were diagnosed at the Institute of Tropical Medicine from 1991 to 2017.

Materials and Methods:

patients with a diagnosis of CGD were included. Clinical records of hospitalized CGD patients were reviewed, clinical-demographic characteristics were determined, including the age of onset of clinical manifestations, age of diagnosis, family history of consanguinity, family history of similar conditions, clinical manifestations, frequency of infectious diseases, complications associated with the BCG vaccine, hospitalization days and disease evolution.

Results:

11 patients were identified (8 men and 3 women). All the patients belonged to 8 families, 2 families were identified who had more than one affected member (1 family with 2 sisters and another with 2 affected cousins and one aunt). Two of the 11 patients had a family history of premature death within 3 generations. The mean age of symptom onset was 14.5 ± 10.3 months and age at the time of diagnosis was 32.4 ± 25.06 months. In one patient, a history of consanguinity was identified; although all patients received the BCG vaccine, none presented a history of BCG adenitis. The mean number of infectious cases that required hospitalization was 3 ± 1.7. During the study period, patients presented with 38 infectious conditions. Pulmonary infections were the most frequently observed 42.1% (16/38), including pneumonia (9/38), lung abscess (1/38), pulmonary tuberculosis (1/38) and bronchiolitis (14/38). Other infectious conditions that required hospitalization were sepsis 18.4% (7/38), one of them with endocarditis, adenitis 13.2% (5/38), skin and soft tissue infections 13.2% (5/38), bacterial meningitis and osteomyelitis 2.6% (1/38), respectively. In 19 of the infectious conditions, the causative microorganism was isolated, the most frequent being S. aureus (n = 9), but in 10 cases an unusual microorganism was isolated [Aspergillus (n = 4), Chromobacterium violaceum, Burkholderia cepacia, Enterobacter cloacae, Serratia marcescens, Mycobacterium tuberculosis (one in each case.)] The mean hospitalization time was 23.3 ± 14.1 days and the accumulated mortality of 3/11.

Conclusions:

Coinciding with other series, most cases of CGD in Paraguay were observed in males, and the age of onset of symptoms was before 2 years of age.The diagnosis of the disease was made relatively early. The most frequent infectious site were the lungs, with the microorganism most frequently isolated being S. aureus, although unusual microorganisms were isolated in a significant number of cases. It is essential to consider this diagnosis in patients with recurrent bouts of infectious conditions and caused by unusual microorganisms.

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