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

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

• Pedraza, R. M., Bezerra, H. K. F., Magaña, L. C., Montaña, L. C. P., Lino, Y. R., Salazar, A. G., ... & Martelli-Júnior, H. (2023). Multiple odontogenic keratocysts in a patient with Lowe syndrome: a first case report and literature review. Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 136(6), e171-e176.
• Marques, A., Ramos, L., Gomes, C., & Correia, A. J. (2010). Lowe syndrome. Case report of a patient with a missense mutation in the OCRL1 gene. Port J Nephrol Hypert, 24(3), 239-42.
• Loi M. Lowe syndrome. Orphanet J Rare Dis 2006;1:16.
• Gianesello, L., Arroyo, J., Del Prete, D., Priante, G., Ceol, M., Harris, P. C., ... & Anglani, F. (2021). Genotype phenotype correlation in dent disease 2 and review of the literature: OCRL gene pleiotropism or extreme phenotypic variability of lowe syndrome?. Genes, 12(10), 1597.
• Erdoğan, F., Ismailoğullari, S., Soyuer, I., Ferahbaş, A., & Poyrazoğlu, H. (2007). Different seizure types and skin lesions in oculocerebrorenal syndrome of Lowe. Journal of child neurology, 22(4), 427-431.
• Maia, M. L. D. A., Val, M. L. D. M. D., Genzani, C. P., Fernandes, F. A. T., Andrade, M. C. D., & Carvalhaes, J. T. D. A. (2010). Lowe syndrome: report of five cases. Brazilian Journal of Nephrology, 32, 216-222.
• Sener RN. Diffusion magnetic resonance imaging patterns in metabolic and toxic brain disorders. Acta Radiol 2004;45(5):561-70.
• Maia, M. L. D. A., Val, M. L. D. M. D., Genzani, C. P., Fernandes, F. A. T., Andrade, M. C. D., & Carvalhaes, J. T. D. A. (2010). Lowe syndrome: report of five cases. Brazilian Journal of Nephrology, 32, 216-222.
• Walton, D. S., Katsavounidou, G., & Lowe, C. U. (2005). Glaucoma with the oculocerebrorenal syndrome of Lowe. Journal of glaucoma, 14(3), 181-185.
• Okawa, R., Naka, S., Saga, K., & Nakano, K. (2016). Lowe syndrome oral findings: Case report. pediatric dental journal, 26(1), 34-37.