Köpeklerde Fukosidozis: Güncel Tedavi Yöntemleri ve Araştırma Perspektifleri

Year 2025, Volume: 6 Issue: 1, 46 - 52, 30.06.2025

Hasan Erdoğan , İlayda Tendar , Tahir Özalp , Songül Erdoğan , Kerem Ural

https://doi.org/10.58833/bozokvetsci.1624375

Abstract

Köpeklerde fukosidozis, lizozomal depo hastalıkları grubunda yer alan ve α-L-fukosidaz enzim eksikliği nedeniyle ortaya çıkan genetik bir hastalıktır. Otozomal resesif olarak kalıtılan bu hastalık, progresif nörolojik semptomlar, viseral organ lezyonları ve dokularda glikolipid ile glikoprotein birikimi ile karakterizedir. Klinik olarak, koordinasyon kaybı, davranış değişiklikleri, nöbetler, körlük, kas zayıflığı ve ilerleyici nörolojik disfonksiyon gibi belirtiler gözlemlenir. Fukosidozisli köpeklerde semptomlar genellikle genç yaşta başlar ve erken dönemde tedavi edilmezse hastalık ilerleyerek ölümle sonuçlanabilir. Tedavi yöntemleri arasında hematopoetik kök hücre transplantasyonu (HCT) öne çıkmaktadır. Bu yöntem, sinir sisteminde α-L-fukosidaz aktivitesini artırarak nöropatolojik lezyonları iyileştirmiş ve klinik semptomları hafifletmiştir. Özellikle erken teşhis edilen vakalarda, HCT'nin köpeklerde yaşam kalitesini artırdığı ve hastalığın ilerleyişini yavaşlattığı bildirilmiştir. Enzim replasman tedavisi (ERT) de umut vaat eden bir yaklaşım olmakla birlikte, bu yöntemin etkinliği sınırlıdır ve substrat birikiminin tamamen giderilmesi henüz mümkün olmamıştır. Köpeklerde fukosidozis üzerine yapılan araştırmalar, hem hastalığın patofizyolojisini anlamak hem de insan ve hayvanlarda tedavi stratejileri geliştirmek için kritik bir model sunmaktadır. Ancak, tedavide kan-beyin bariyerini aşabilecek yeni yöntemlerin geliştirilmesi gerekliliği devam etmektedir. Gen tedavisi gibi yenilikçi yaklaşımlar, bu alandaki çalışmalar için büyük bir potansiyele sahiptir.

Keywords

Fukosidoz , Köpek , Lizozomal depo hastalıkları , Sinir sistemi

Fucosidosis in Dogs: Current Treatment Approaches and Research Perspectives

Abstract

Fucosidosis in dogs is a genetic disorder classified under lysosomal storage diseases, caused by a deficiency of the enzyme α-L-fucosidase. This autosomal recessive condition is characterized by progressive neurological symptoms, visceral organ lesions, and the accumulation of glycolipids and glycoproteins in tissues. Clinically, affected dogs exhibit signs such as loss of coordination, behavioral changes, seizures, blindness, muscle weakness, and progressive neurological dysfunction. Symptoms typically manifest at a young age, and without early intervention, the disease progresses and often leads to death.Among treatment options, hematopoietic stem cell transplantation (HCT) stands out. This approach has been shown to increase α-L-fucosidase activity in the nervous system, ameliorate neuropathological lesions, and alleviate clinical symptoms. Particularly in cases diagnosed early, HCT has been reported to improve the quality of life and slow the progression of the disease in dogs. Enzyme replacement therapy (ERT) also represents a promising strategy, though its effectiveness remains limited, and complete resolution of substrate accumulation has not yet been achieved. Research on canine fucosidosis provides a critical model for understanding the pathophysiology of the disease and developing therapeutic strategies for both humans and animals. However, there remains a pressing need to develop novel methods capable of crossing the blood-brain barrier for more effective treatments. Innovative approaches, such as gene therapy, hold significant potential for advancing the field and improving outcomes for affected individuals.

Keywords

Fucosidosis , Dog , Lysosomal Storage Diseases , Nervous System

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