open access

Vol 76, No 1 (2008)
CASE REPORTS
Published online: 2007-12-14
Submitted: 2013-02-22
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Chronic granulomatous disease recognised in 42-years-old patient

Justyna Fijołek, Elżbieta Wiatr, Dariusz Gawryluk, Iwona Bestry, Ewa Bernatowska, Waldemar Jabłoński, Kazimierz Roszkowski-Śliż
Pneumonol Alergol Pol 2008;76(1):58-65.

open access

Vol 76, No 1 (2008)
CASE REPORTS
Published online: 2007-12-14
Submitted: 2013-02-22

Abstract

Chronic granulomatous disease (CGD) comprises a heterogeneous group of diseases that are caused by defect in the superoxide-producing NADPH oxidase of neutrophils. This defect impairs the intracellular killing of microorganisms. Typical manifestations are recurrent bacterial or mycotic infections affecting the lungs, skin, lymph nodes and gastrointestinal tract (liver). Chronic granulomatous disease could be diagnosed on the basis of the anamnesis, clinical picture and results of granulocyte function tests showing impaired phagocytic activity (NBT tests, RDH test and a deficit of superoxide production). Typically symptoms of disease occur in the first years of live, leading often to death in the 2. or 3. decade. Below we present a patient, in whom diagnosis of the CGD was established at the age of 42.

Abstract

Chronic granulomatous disease (CGD) comprises a heterogeneous group of diseases that are caused by defect in the superoxide-producing NADPH oxidase of neutrophils. This defect impairs the intracellular killing of microorganisms. Typical manifestations are recurrent bacterial or mycotic infections affecting the lungs, skin, lymph nodes and gastrointestinal tract (liver). Chronic granulomatous disease could be diagnosed on the basis of the anamnesis, clinical picture and results of granulocyte function tests showing impaired phagocytic activity (NBT tests, RDH test and a deficit of superoxide production). Typically symptoms of disease occur in the first years of live, leading often to death in the 2. or 3. decade. Below we present a patient, in whom diagnosis of the CGD was established at the age of 42.
Citation Formats

Keywords

chronic granulomatous disease; NADPH oxidase of phagocytic cells; infections

About this article
Title

Chronic granulomatous disease recognised in 42-years-old patient

Journal

Advances in Respiratory Medicine

Issue

Vol 76, No 1 (2008)

Pages

58-65

Published online

2007-12-14

Bibliographic record

Pneumonol Alergol Pol 2008;76(1):58-65.

Keywords

chronic granulomatous disease
NADPH oxidase of phagocytic cells
infections

Authors

Justyna Fijołek
Elżbieta Wiatr
Dariusz Gawryluk
Iwona Bestry
Ewa Bernatowska
Waldemar Jabłoński
Kazimierz Roszkowski-Śliż

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