Salih Hakan NURAÇ, Fatma UKİL IFİILDAK, Eltaf Ayça ÖZBAL, Emine Zeynep ETİ

SEREBROTENDİNÖZ KSANTOMATOZİS VE GLUKOZ-6-FOSFAT DEHİDROGENAZ ENZİM EKSİKLİĞİ OLAN HASTADA GENEL ANESTEZİ YÖNETİMİ

Serebrotendinöz ksantomatozis tendon ksantomlarıyla birlikte; göz, kardiyak ve nörolojik tutulum izlenen, otozomal resesif geçişlioldukça az rastlanan bir lipid depo hastalığıdır. Hastalığa kolesterolü kolik asit ve kenodeoksikolik aside çeviren sterol-27-hidroksilazenzimini kodlayan CYP27A1 genindeki mutasyon neden olur. Bu sunumda: serebrotendinöz ksantomatozise ek olarak X'e bağlıresesif geçişli glukoz-6-fosfat dehidrogenaz eksikliği de bulunan bir hastada literatür bilgilerinin ışığında septoplasti operasyonusırasında anestezi yönetimimiz anlatılmaktadır.

GENERAL ANESTHESIA MANAGEMENT IN PATIENTS WITH CEREBROTENDINOUS XANTHOMATOSIS AND GLUCOSE-6-PHOSPHATE DEHYDROGENASE ENZYME DEFICIENCY

Cerebrotendinous xanthomatosis; characterized by tendinous xanthomas, along with ophtalmic, cardiac and neurologic involvement,is a rare lipid storage disease which is inherited in an autosomal recessive manner. The disease is caused by a mutation ofCYP27A1 gene that encodes sterol 27-hydroxylase, a key enzyme in the process of cholic acid and deoxycholic acid synthesis fromcholesterol. We reported the anesthesia management of a patient with an X-linked recessive disorder of glucose-6-phosphatedehydrogenase deficiency in addition to cerebrotendinous xanthomatosis in the light of literature information.

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