Pridoksal Fosfatın Kolajen Tip VI İlişkili Miyopatilerde Potansiyel Tedavi Edici Etkisi

Yıl 2018, Cilt: 1 Sayı: 3, 111 - 115, 14.12.2018

İşıl Özer

https://doi.org/10.33713/egetbd.455485

Öz

Giriş: Primer Hiperoksalüri Tip I (PH1) Pridoksal 5 Fosfat
bağımlı Alanin Gliksilat Aminotransferaz (AGT) 
enzimi bozukluğudur. Konjenital müsküler distrofiler (CMDs) nadir bir
kalıtsal hastalık grubudur. Ullrich Konjenital Müsküler Distrofi (UCMD) ciddi klinik
bulgusu olan CMD’lerden biridir.

Olgu: Oniki buçuk yaşında kız hasta hiperoksalüri bulgusu
ile başvurdu. Hastanın COL6A2 gen mutasyonlu UCMD hastalığı tanısı ile
izlenmekte olduğunu öğrendik. Aynı zamanda PH1 ile ilişkili AGT Pro 11 Leu/Ile
340 Met homozigot mutasyonu da bulundu. Pridoksal fosfat tedavisinden sonra, oksalozis
ile ilişkili cilt bulguları düzeldi, idrar oksalat/kreatinin oranı azaldı. Sürpriz
olarak, hastanın UCMD ile ilişkili kas bulguları da belirgin düzeldi. 

Tartışma: Pridoksal fosfatın, kollajen tip VI ile ilişkili
miyopatilerin günümüzde sadece semptomatik olan tedavisinde ne kadar etkili
olacağı konusunda ileri tetkikler yapılması gerektirmektedir.

Anahtar Kelimeler

Kas distrofisi, hiperoksaluri, yeni tedavi metodu, pridoksin

Kaynakça

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