Pridoksal Fosfatın Kolajen Tip VI İlişkili Miyopatilerde Potansiyel Tedavi Edici Etkisi

Year 2018, Volume: 1 Issue: 3, 111 - 115, 14.12.2018

İşıl Özer

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

Abstract

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.

Keywords

Kas distrofisi , hiperoksaluri , yeni tedavi metodu , pridoksin

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