[Chronic granulomatous disease: clinical and functional studies in six cases (author's transl)].
Six cases of chronic granulomatous disese (CGD), three of which correspond to the X-linked genetic form and the three other to the autosomic recessive type are reported. The fact of half of the patients being females is relevant as only 24 are cited by Klebanoff and Clark in their revision in 1978. X-linked CGD: The three patients, two of them brothers, presented their first manifestations in the first year of life; in one of the BCG given at one week of life resulted in adenitis of protracted course with calcificaton. The clinical course has been very severe in two of them. At the present time the patients are 15, 11 and 9 years old. Functional studies have shown very low values in NBT tests, O2 consumption, iodination and bactericidal activity in all three. Intermediate values in the mothers and normal values in the fathers were found. Autosomal CGD: Of our three patients, two were sisters. The first manifestations appeared during the first thrimester of life. The eldest had hepatic and pulmonary granulomata at three years old. At five years, she presented an intestinal obstruction syndrome with gastric antral, duodenal and ileal stenosis caused by intramural granulomata and inflammation; she died of pneumonia shortly after. Her sister had dermatitis, hepatic abscess, pneumonia, adenitis and osteomyuelitis of the ribs; she died at six years old after a bronchopneumonia. Last patient had a sister who died at two years old affected probably gy CGD. At present our patient is 17 months old and so far had recurrent otitis, adenitis, a pneumonia and, recently, hepatic granulomata have been found. Fonctional studies in the two sisters showed similar alterations as those of the three boys. In this patient an alteration of chemotaxis of cellular origen was found as well.
D000293:Adolescent; D001500:BCG Vaccine / Q000009:adverse effects; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D005808:Genes, Recessive; D006098:Granulocytes / Q000503:physiopathology; D006105:Granulomatous Disease, Chronic / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D014376:Tuberculosis / Q000517:prevention & control
D001500:BCG Vaccine
Enfermedad granulomatosa crónica. Evolución clínica y estudios funcionales en seis casos.