Chronic granulomatous disease and diagnostic algorithm

Yıl 2019, Cilt: 7 Sayı: Ek - IRUPEC 2019 Kongresi Tam Metin Bildirileri, 633 - 635, 10.12.2019

Mustafa Yavuz Köker

Öz

Recurrent bacterial and fungal infections that involve the lungs, lymph nodes, liver and other visceral organs. Granuloma formation may occur in the tissues of the infection area, depending on the prolongation of infections in KGH. Hypergammaglobulinemia (IgG ), hepato-splenomegaly and enteritis are frequently observed. The X-CGD form, which is seen especially in boys, usually appears before the age of 1 and is more severe. Mild phenotypes, especially autosomal recessive form (p47-phox deficiency) may occur at a later age. The patient and healthy neutrophil population, which constitute the carrier character in mothers in X-linked form, are observed. Mild clinical signs can be observed in approximately 50% of mothers. In some rare cases, CGD symptoms can be observed in women due to x-ch inactivation deviation.

Anahtar Kelimeler

diagnostic algorithm

Kaynakça

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