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European Journal of Pediatrics

, Volume 150, Issue 5, pp 325–326 | Cite as

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

  • J. Kimpen
  • R. Van Damme-Lombaerts
  • G. Van den Berghe
  • W. Proesmans
Immunology/Allergology

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 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-Schönlein nephritis, and speculate on the possibility that the gene defect of autosomal recessive CGD may be located on chromosome 18.

Key words

Chronic granulomatous disease 18q Syndrome Henoch-Schönlein nephritis 

Abbreviations

CGD

chronic granulomatous disease

NADPH

nicotinamide adenine dinucleotide phosphate, reduced

NBT

nitroblue tetrazolium test

PMNs

polymorphonuclear neutrophils

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Copyright information

© Springer-Verlag 1991

Authors and Affiliations

  • J. Kimpen
    • 1
  • R. Van Damme-Lombaerts
    • 1
  • G. Van den Berghe
    • 1
  • W. Proesmans
    • 1
  1. 1.Department of Paediatrics, University Hospital GasthuisbergUniversity of LeuvenLeuvenBelgium

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