Perihan EKMEKÇİ, ZÜLEYHA KAZAK BENGİSUN, ARZU PAMPAL, BATURAY KANSU KAZBEK, Arif Hikmet SÜER

Anesthesia for a patient with glycogen storage disease type IA

Glikojen depo hastalıkları (GDH) glikojen sentez ve yıkımında rol oynayan fonksiyonel enzimlerin metabolik bozukluğu ile karakterize kalıtımsal hastalıklardır. Glikojen depo hastalığı tip la (GDH-Ia, O MİM 232200) glukoz-6 fosfataz enzim kompleksinde gen kaybı ile karakterize kalıtımsal bir bozukluktur. Bu vaka sunumunun amacı elektif günübirlik cerrahide GDH tip la tanısı olan bir hastada komplike ve uzun süren bir cerrahi prosedür ve komplikasy onsuz rejyorıal anestezi uygulamasını anlatmaktır. Bu olguda bu hastalığa bağlı ciddi koagülasyon bozukluğu nedeni ile kanama komplikasyonu gözlendi. Klinisyenler bu tip hastalığı olan hastalarda, özellikle rejyonal anestezi planlanıyor ise kanama konusunda hazırlıklı olmalıdırlar.

Glikojen depo tip IA hastalığı olan bir hastada anestezi uygulaması

Glycogen storage diseases (GSD) are a group of inherited metabolic disorders concerning the functional enzymes of the synthesis and degradation of glycogen. Glycogen storage disease type la (GSD-Ia, OMIM 232200) is an inherited disorder with an absent gene expression of glucose-6 phosphatase enzyme complex. The aim of this case report is to present a complicated surgery with an uncomplicated regional anesthesia and an anesthetic follow up in a patient with GSD type la in an elective day case surgery. In this case, there was a serious bleeding problem due to the coagulation disorders related to the disease. Clinicians should be prepared for bleeding disorders in patients with glycogen storage disease type la, especially if regional anesthesia will be used.

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