CHRONIC GRANULOMATOUS-DISEASE OF CHILDHOOD - RESPIRATORY CYTOLOGY

Chronic granulomatous disease (CGD) of childhood is a rare inherited d isease in which phagocytic cells fail to produce the normal respirator y burst in response to infectious stimuli, leaving the patient particu larly susceptible to infections with bacteria and fungi that produce c atalase. Between 1988 and 1993 at the NIH, 58 pulmonary cytology speci mens were obtained on 24 CGD patients. The number of specimens per pat ient ranged from one to 13 with an average of 2.4. The 58 specimens in cluded: 33 bronchoalveolar lavages; one bronchial brushing; 20 lung or pleural mass fine-needle aspirates; three pleural fluids, and one spu tum. Two lung aspirates with insufficient material, five bronchoalveol ar lavages performed post-treatment to confirm clinical resolution of disease, and two bronchoalveolar lavages not submitted for culture wer e excluded from further analysis. Of the 49 remaining specimens obtain ed from patients clinically suspected of having a pulmonary infection, cytology demonstrated a pathogenic organism in nine (18%). Microbiolo gic cultures were positive in 19/49 (39%). Cytology identified fungus in 8/13 (62%) of documented fungal infections, including four cases wh ere microbiology was negative. Bacterial and mixed bacterial/ fungal i nfections were usually not detected by cytology even with appropriate stains. No organisms were identified by cytology in the four cases of nocardia or the three cases of pseudomonas infection. The combination of cytology and microbiology provided the greatest diagnostic sensitiv ity, yielding a diagnosis in 22/49 cases (45%). Of the 27 cases with n egative cytology and microbiology, an infectious agent was identified in eight upon submission of additional material: three cytology specim ens and five tissue specimens. In the remaining 19 cases, no organisms were identified, however, the patients were treated presumptively. Ch aracteristic pathologic features of granulomatous inflammation, necros is, and giant cells were present in fine-needle aspirates, often when no organisms could be identified but were not seen in other types of r espiratory specimens, (C) 1996 Wiley-Liss, Inc.