Çocukluk Çağında Nörolojik Bulguların Eşlik Ettiği Nadir Hastalıklar

Öz

Nadir hastalıklar (NH), genel tanım olarak 1/2.000’den daha az sıklıkta görülen hastalıkları ifade etmektedir. Sayısı giderek artmakla birlikte 6528 nadir hastalığın %71,9'u genetik özellikte ve %69,9'u çocukluk çağında başlamaktadır. NH’ın çoğuna nörolojik belirtiler eşlik etmektedir. Çocukları etkileyenlerin yaklaşık %90'ının önemli nörolojik etkileri vardır. NH’ın önemli bir kısmı genetiktir (Duchenne musküler distrofisi gibi). Amerika Birleşik Devletleri’nde seçilmiş 373 nadir hastalığın yıllık ekonomik maliyeti 2.2 trilyon ABD dolar, geç tanıya bağlı ekonomik kayıp kişi başına 517 bin ABD doları olarak hesaplanmıştır. Son yıllarda spinal musküler atrofide olduğu gibi nadir hastalıkların tanısı, tedavisi, yönetimi ve önlenmesi ile ilgili önemli gelişmeler yaşanmaktadır. Sağlık hizmetlerinde klasik usulden “akıllı sağlık sistemi” sürecine geçilmesi öngörülmektedir. Bu sürecin üç temel bileşeni entegre çoklu-omik analizleri, kişiye-özgü tıp ve yapay zekâ olarak gözükmektedir. Tanı konulduktan sonra tedavi edilebilir özellikte olanlarda diyet, farmakolojik, vitamin, eser element, enzim replasmanı, antisens oligonükleotid, kemik iliği nakli, kök hücre tedavisi, solid organ nakli, gen modülasyon ve replasman tedavileri gibi seçenekler bulunmaktadır. Solunum, beslenme, fizik tedavi gibi destekleyici yaklaşımlar hayati öneme sahiptir, çocuğun ve ailesinin yaşam kalitesini arttırılması hedeflenmelidir. Ayrıntılı öykü ve fizik muayene doğru ve erken tanının ilk ve en önemli aşamalarıdır. Nadir hastalıklar hakkında farkındalığın artması, bu çocuklarımıza erken tanı ve nörolojik hasar gelişmeden önce tedavi şansı sağlayabilir.

Anahtar Kelimeler

• Nadir hastalık
• çocuk
• nörolojik hastalık
• spinal musküler atrofi
• çoklu-omik
• kişiye-özgü tıp
• yapay zekâ
• hassas tıp

Rare Diseases Accompanied by Neurological Findings in Childhood

Öz

Rare diseases (RD), by general definition, refer to diseases that occur at a frequency of less than 1 in 2,000. While the number is increasing, 71.9% of the 6,528 rare diseases are genetic, and 69.9% begin in childhood. Most RD cases are accompanied by neurological symptoms. Approximately 90% of those affecting children have significant neurological effects. A significant portion of RD is genetic (such as Duchenne muscular dystrophy). The annual economic cost of 373 selected rare diseases in the United States is estimated at US$2.2 trillion, with the economic loss per capita due to late diagnosis being up to US$517,000. In recent years, significant advances have been made in the diagnosis, treatment, management, and prevention of rare diseases, such as spinal muscular atrophy. A transition from traditional healthcare to a "smart healthcare system" is envisioned. The three key components of this process appear to be integrated multi-omics analyses, personalized medicine, and artificial intelligence. After diagnosis, options for those with treatable conditions include diet, pharmacology, vitamins, trace elements, enzyme replacement, antisense oligonucleotide, bone marrow transplantation, stem cell therapy, solid organ transplantation, gene modulation, and replacement therapy. Supportive approaches, such as respiratory, nutritional, and physical therapy, are vital and should aim to improve the quality of life for both the child and their family. A detailed history and physical examination are the first and most essential steps in achieving accurate and early diagnosis. Increasing awareness of rare diseases can provide these children with the opportunity for early diagnosis and treatment before neurological damage develops.

Anahtar Kelimeler

• Rare disease
• child
• neurological disease
• spinal muscular atrophy
• multi-omics
• personalized medicine
• artificial intelligence
• precision medicine

Kaynakça

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