Konjenital Glikozilasyon Bozukluğu Tip II

Abstract

Konjenital glikozilasyon bozuklukları ( CDG ) glikanların sentezinde ve diğer bileşiklere bağlanmasında defektlerin neden olduğu geniş bir genetik hastalıklar grubudur. İlk hastaların tanımlandığı 1980 yılından beri 40 tip CDG ( protein ve lipid glikozilasyon defektlerini kapsayan ) keşfedilmiştir. Konjenital glikozilasyon bozuklukları; esasen karaciğer-bağırsak hastalığı olan CDG-1b hariç tüm sistemleri özellikle de santral sinir sistemini etkiler.Açıklanamayan nörolojik bulguları ( psikomotor retardasyon, hipotoni, hiporefleksi, serebellar hipoplazi, konvülziyon ), hipoglisemisi, kolestazisi, karaciğer işlev bozuklukları, koagulopatisi, büyüme geriliği, görme bozuklukları ve iskelet tutulumu olan hastalarda konjenital glikozilasyon bozuklukları ayırıcı tanıda akla getirilmelidir.Burada, hipotonisi, psikomotor geriliği, büyüme geriliği, fasial dismorfisi, karaciğer tutulumu, iskelet bulguları ve hipoglisemisi olan ve izoelektrik odaklamada sialotransferrinleri tip 2 şekli gösteren kız hastamızı sunuyoruz.

Keywords

• Konjenital glikozilasyon bozuklukları, tip II, infant

CONGENITAL DISORDER OF GLYCOSYLATION TYPE II

Abstract

Congenital disorders of glycosylation ( CDG ) are a large group of genetic diseases resulting from defects in the synthesis of glycans and in the attachment of glycans to other compounds. Since 1980, the first description of patients, 40 types of CDG ( including protein and lipid glycolysation defects ) have been discovered. CDGs affect all systems and particularly the CNS, except for CDG -Ib, which is mainly a hepatic-intestinal disease.CDGs must be kept in mind by the pediatricians in the differential diagnosis of the patients with unexplained neurologic findings ( psychomotor retardation, hypotonia, hyporeflexia, cerebellar hypoplasia, convulsion ), hypoglycemia, cholestasis, liver function disorders, coagulopathy, failure to thrive, ocular disorders and skeletal involvement. We present an infant girl with psychomotor retardation, growth retardation, facial dysmorphy, liver involvement, skeletal findings, hypoglycemia and type 2 pattern of sialotransferrins in isoelectric focusing

Keywords

• Congenital disorder of glycosylation, type II, infant

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