title: 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. Two main types of CGD are known, an X-linked form which is normally associated with the absence of cytochrome b558, a component of the membrane-associated reduced nicotinamide adenine dinucleotide phosphate (NADPH) oxidase which generates superoxide and an autosomal recessive form, in which cytochrome b558 is present, caused by the deficiency of a cytosolic factor required to activate NADPH oxidase. Patients with the X-linked type are highly susceptible to infections; those with the autosomal recessive form may be less severely affected. 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.
authors.affiliation: Department of Paediatrics, University Hospital Gasthuisberg, University of Leuven, Belgium.
authors.forename: J
authors.initials: J
authors.lastname: Kimpen
authors.forename: R
authors.initials: R
authors.lastname: Van Damme-Lombaerts
authors.forename: G
authors.initials: G
authors.lastname: Van den Berghe
authors.forename: W
authors.initials: W
authors.lastname: Proesmans
mesh_terms: D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002887:Chromosomes, Human, Pair 18; D005260:Female; D005808:Genes, Recessive; D006105:Granulomatous Disease, Chronic / Q000150:complications / Q000235:genetics*; D006801:Humans; D011695:IgA Vasculitis / Q000150:complications*; D007231:Infant, Newborn; D007676:Kidney Failure, Chronic / Q000209:etiology*; D009394:Nephritis, Hereditary / Q000150:complications*; D009504:Neutrophils / Q000378:metabolism; D010084:Oxidation-Reduction; D013577:Syndrome