[Chronic granulomatous disease recognised in 42-years-old patient].
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.
Fijołek
Justyna
J
III Klinika Chorób Płuc, Instyutu Gruźlicy i Chorób Płuc w Warszawie, Warszawa.
Wiatr
Elzbieta
E
Gawryluk
Dariusz
D
Bestry
Iwona
I
Bernatowska
Ewa
E
Jabłoński
Waldemar
W
Roszkowski-Sliz
Kazimierz
K
D000328:Adult; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000000981:diagnostic imaging*; D006801:Humans; D019255:NADPH Oxidases / Q000378:metabolism; D009504:Neutrophils / Q000378:metabolism; D011859:Radiography; D013481:Superoxides / Q000378:metabolism*
D013481:Superoxides; D019255:NADPH Oxidases