Çocuklarda İmmün Yetmezliklere Yaklaşım

Abstract

Primer immün yetmezlikler fırsatçı enfeksiyonlar, malig- nite ve otoimmüniteye eğilim yaratan genetik geçişli has- talıklardır. Bu hastalıkların çoğu otozomal resesif geçişli olup, akraba evliliğnin sık olduğu bölgelerde daha fazla görülmektedir. Çoğu immün yetmezlikler sürecin başlan- gıcından itibaren dikkatli bir öykü ve fizik muayene ile tanı konulabilir. Akılcı laboratuvar incelemeleri ayırıcı tanıda yardımcı bilgiler sağlar. Primer immün yetmezlik- lerde ciddi enfeksiyonlar ortaya çıkmadan önce tanı konulması, prognoz ve aileye zamanında genetik danışma verilebilmesi için önemlidir. Aile öyküsünün ve klinik özelliklerin iyi değerlendirilmesi hastalığın erken tanısı için çok önemlidir

Keywords

• İmmün yetmezlik,enfeksiyon,çocuk

Approaches to Diagnosis of Immunodeficiency Diseases in Children

Abstract

Primary immunodeficiency disorders PIDs are inherited diseases of the immune system resulting in increased sus- ceptibility to unusual infections and predisposition to auto- immünity and malignancies. Most PIDs are inherited in an autosomal recessive pattern; therefore, they are more com- mon in areas with high rates of consanguineous marriages. Most immunodeficiency disorders can be diagnosed readily by employing a methodical process starting with careful analysis of the child’s presenting history and physical exa- mination. Rational laboratory examinations provides ancil- lary information for differential diagnosis. Early identifica- tion of PIDs beforeemergence of serious infections is important for prognosis, and providing timely genetic counselling to the family. Proper evaluation of family his- tory and clinical presentation of the patient are extremely important for the early diagnosis of this disorder

Keywords

• Immune deficiency,infection,child

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