Chronic granulomatous disease

Revista Cubana de Hematología, Inmunología y Hemoterapia

Arce Hernández, Ada A¹  García García, Idrián²  Macías Abraham, Consuelo¹  Sánchez Segura, Miriam¹  Villaescusa Blanco, Rinaldo¹  Marsán Suárez, Vianed¹  Palma Salgado, Lourdes¹  del Valle Pérez, Lázaro O¹ 

[1] Instituto de Hematología e Inmunología, La Habana, Cuba;Centro de Ingeniería Genética y Biotecnología, La Habana, Cuba

关键词: inmunodeficiencia primaria;    enfermedad granulomatosa crónica;    infecciones recurrentes;   

DOI  :  

学科分类：生理学与病理学

来源: SciELO

【 摘 要 】

Chronic granulomatous disease (CGD) is a primary immunodeficiency with a defect of the phagocytosis process. A 13 year-old adolescent with recurrent life-threatening episodes since one month of birth is presented. The main clinical manifestations included diarrhea, stomatitis, cellulitis, lymphadenitis, pneumonia, granuloma formation, pulmonary tuberculosis, pulmonary and hepatic abscesses. Physical examination showed poor growth, hepatomegaly, adenopathies, hyperextension of extremities and chronic gingivitis. Immunological studies showed normal concentrations of immunoglobulins (Ig): IgM: 0,98 g/L (0,69 - 2,69 g/L), IgA: 2,76 g/L (1,58 - 3,94 g/L) and IgE: 11,70 UI/mL ( < 50 UI/ml), C3 and C4 (1,28 g/L (0,9 - 1,7 g/L) and 0,30 g/L (0,2 - 0,4 g/L), respectively, and hypergammaglobulinemia of 17,2 g/L (7,81 - 15,30 g/L). Lymphocytes count T CD3, CD4 and CD8 positive were normal: 62 % (52 - 78 %), 45 % (25 - 48 %) y 15 % (9 - 35 %) and B lymphocytes count was also normal: 24 % (8 - 24 %). Opsonophagocytic index was normal at time 15 and 60 minutes: 35 % (22,99 - 53,95 %) and 12,50 % (6,63 - 28,43 %), respectively. Diagnosis was confirmed with negative nitroblue tetrazolium test . Treatment with antibiotics, fungistats, as well as gamma interferon contributed to a favorable response, presenting a lower amount of infectious episodes as well as a recovery of weight and height. Early diagnosis and treatment of CGD has improved prognosis and reduced patients´ morbidity and mortality.

【 授权许可】

Unknown