Erken Tanı Alan Nadir Bir Katarakt Nedeni: Lowe Sendromu

Yıl 2024, Cilt: 7 Sayı: 3, 96 - 96, 03.01.2025

Harun Yıldız , Abdullah Sezer , Mustafa Kılıç

https://doi.org/10.33713/egetbd.1537392

https://izlik.org/JA63GC49PJ

Öz

Lowe sendromu (okuloserebrorenal sendromu), X'e bağlı resesif kalıtım göstermekte olup sorumlu gen OCRL1 genidir. OCRL1 geni golgi kompleksinde bulunan fosfatidilinositol-4,5-bifosfat-5 fosfatazı kodlar. Hastalığın klinik bulguları konjenital katarakt, zeka geriliği ve renal tübüler disfonksiyondur. Bu çalışmada erken tanı alan ve OCRL1 geninde yeni mutasyon saptanan bir Lowe sendromu hastası tartışıldı.

Anahtar Kelimeler

konjenital katarakt , lowe sendromu , proteinüri

Kaynakça

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