[Clinical course and pathomechanisms of chronic granulomatosis]

Chronic granulomatous disease (CGD) is characterized by frequent uncontrollable infections which often lead to death in early childhood. The first clinical signs may be confined to the skin and manifest themselves as abscesses, pyoderma, eczema or draining sinuses. Frequently, lymph nodes, spleen, lungs or liver are also involved. The basic defect is a failure of leukocytes to kill certain bacteria or fungi. The exact biochemical defect is however not yet known. The diagnosis of CGD is based on the clinical picture and on a defect of the granulocytes, as proven by bactericidal, NBT-reduction or chemiluminescence tests. In most and possibly in all of the cases, the disease is X-linked, and the CGD-gene has been regionally assigned to the X-chromosome. The existence of a second type of CGD with autosomal recessive inheritance has been assumed by several authors. In order to improve the prognosis of CGD, it is essential that the disease is diagnosed as early as possible so that prompt treatment can be given.