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Abstract

Niemann-Pick disease is an autosomal recessively inherited group of congenital lipidoses in which sphingolipids accumulate in certain tissues, especially reticuloendothelial cells. The clinical phenotype is extremely variable, ranging from an acute neonatal form, to an adult late-onset form. We presented two patients who admitted to our clinic with hepatosplenomegaly and diagnosed as Niemann-Pick disease type A and type B.

Keywords

• Lipid storage disease, Niemann-Pick disease, Sphingomyelinase.

Niemann-Pick hastalığı tip A ve tip B: İki olgu sunumu

Abstract

Niemann-Pick hastalığı, belirli dokularda, özellikle retiküloendotelyel hücrelerde, sfingolipidlerin biriktiği, konjenital lipidoz grubundan otozomal resesif kalıtılan bir hastalıktır. Klinik fenotip olarak akut neonatal formdan geç başlangıçlı erişkin forma kadar aralığı oldukça değişkendir. Karaciğer ve dalak büyüklüğü şikayetiyle kliniğimize başvuran Niemann-Pick hastalığı tip A ve tip B tanıları alan iki hasta sunuldu.

Keywords

• Lipid depo hastalığı, Niemann-Pick hastalığı, Sfingomyelinaz

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