Autosomal recessive chronic granulomatous disease associated with 18q- syndrome and end-stage renal failure due to Henoch-Schönlein nephritis
| Autor: | Willem Proesmans, J. Kimpen, G Van den Berghe, R. Van Damme-Lombaerts |
|---|---|
| Rok vydání: | 1991 |
| Předmět: |
medicine.medical_specialty
Henoch-Schonlein purpura IgA Vasculitis Neutrophils Chromosome Disorders Genes Recessive Nephritis Hereditary Granulomatous Disease Chronic chemistry.chemical_compound Chronic granulomatous disease Chromosome 18 Internal medicine medicine Humans Chromosome Aberrations Oxidase test NADPH oxidase biology Superoxide business.industry Infant Newborn Cytogenetics Syndrome medicine.disease Endocrinology chemistry Pediatrics Perinatology and Child Health Immunology biology.protein Kidney Failure Chronic Female Chromosomes Human Pair 18 business Oxidation-Reduction Nephritis |
| Zdroj: | European Journal of Pediatrics. 150:325-326 |
| ISSN: | 1432-1076 0340-6199 |
| DOI: | 10.1007/bf01955932 |
| Popis: | 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 cytochromeb558, a component of the membrane-associated reduced nicotinamide adenine dinucleotide phosphate (NADPH) oxidase which generates superoxide and an autosomal recessive form, in which cytochromeb558 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-Schonlein nephritis, and speculate on the possibility that the gene defect of autosomal recessive CGD may be located on chromosome 18. |
| Databáze: | OpenAIRE |
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