Sitopeni Etiyolojisinde Doğumsal Metabolik Hastalıklar

Öz

Doğumsal metabolik hastalıklar DMH , tek ya da birden fazla sistemi etkileyerek farklı klinik tablolarla karşımıza çıkabilmektedir. DMH da hematolojik sistem tutulumu sık karşılaşılan bir durumdur. Hematolojik bulgular içinde en sık sitopeni gözlenmektedir. Hastalığın ilk ve tek bulgusu olabilir ve erken tanınması erken tedaviyi ve etkilenebile- cek sistemlerin takibinin yapılmasını sağlayacağından önemlidir. Ülkemizde metabolik hastalıkların sıklığı göz önüne alındığında, tam kan sayımı ve periferik yayma, değerlendirmenin bütününde yer almalıdır. Ek sistem tutu- lumu olan, atipik seyirli, başka nedenlerle açıklanamayan sitopenilerde doğumsal metabolik hastalıkları değerlendir- mek gerekmektedir. Bu makale, geniş bir ayırıcı tanı listesi içeren metabolik sitopeni nedenlerini derleme niteliğinde- dir

Anahtar Kelimeler

• Sitopeni,doğumsal metabolik hastalık

Inherited Metabolic Diseases as Etiological Factors in Cytopenia

Öz

Inherited metabolic diseases IMD , could affect one or more than system and present different clinical situations. Hematologic system abnormalities are common occurrence in IMD. Cytopenia has been the most frequently observed hema- tologic finding. This may be the one and only symptom of the disease. Early recognition will provide early treatment and also monitoring the possibly affected systems. Considering the higher incidence of metabolic disorders in our country, a complete blood count and peripheral smear should be part of diagnostic evaluation of metabolic diseases. It would be wise to evaluate IMDs when cytopenia is associated with additio- nal system involvement, atypical course or unknown etiology. This article contains an extensive list of differential diagnoses of metabolic causes of cytopenia

Anahtar Kelimeler

• Cytopenia,inherited metabolic disease

Kaynakça

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