Autosomal recessive chronic granulomatous disease associated with 18q- syndrome and end-stage renal failure due to Henoch-Schönlein nephritis

Abstract

Chronic granulomatous disease (CGD) is an inherited disorder in which phagocytes, including polymorphonuclear neutrophils, are unable to generate oxygen-derived microbicidal compounds, among them superoxide [1]. Two main types of CGD are known, an X-linked form which is normally associated with the absence of cytochromeb ₅₅₈, a component of the membrane-associated reduced nicotinamide adenine dinucleotide phosphate (NADPH) oxidase which generates superoxide and an autosomal recessive form, in which cytochromeb ₅₅₈ is present, caused by the deficiency of a cytosolic factor required to activate NADPH oxidase [4]. Patients with the X-linked type are highly susceptible to infections; those with the autosomal recessive form may be less severely affected [10]. We report the unusual association of autosomal CGD with 18q- syndrome in a girl who developed terminal renal insufficiency caused by Henoch-Schönlein nephritis, and speculate on the possibility that the gene defect of autosomal recessive CGD may be located on chromosome 18.