Kroni̇k Hastalığı Olan Çocuğun İzlemi̇ ve Toplumda Bakımı

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DOI :10.26650/B/CH32.2024.010.018   IUP :10.26650/B/CH32.2024.010.018    Tam Metin (PDF)

Ki̇sti̇k Fi̇brozi̇si̇ Olan Çocuğun İzlemi̇ ve Toplumda Bakımı

Demet Toprak

Kistik fibrozis (KF) “Kistik Fibrozis Transmembran regulator (KFTR) proteinini” kodlayan genin mutasyonu sonucu ortaya çıkan otozomal resesif bir hastalık olup beyaz ırkın en çok görülen genetik hastalıklarından biridir. Klasik bulguları olan KF’li çocukta ekzokrin pankreatik yetmezliği ve akciğer enfeksiyonları sık görülmektedir. Akciğer hastalığı yeteri kadar iyi tedavi edilmezse progresif olarak bronşektazi ve ileri düzey akciğer hastalığına sebep olmakta ve KF hastalığının en önemli ölüm sebeplerinden birini oluşturmaktadır. KF’e bağlı diğer komplikasyonlar sinüzit, diyabet, bağırsak tıkanıklığı, hepatobiliyer hastalık, hiponatremik dehidratasyon ve infertilitedir. Tedavi sırasında mukosiliyer klirensin artırılması, solunum fizyoterapisi ve enfeksiyonların agresif şekilde tedavisi KF’li çocukların yaşam beklentisini önemli şekilde arttırmıştır. KF’in kesin tanısı ter testinde artmış klor miktarı ve pozitif genetik testiyle konmakla birlikte çoğu olgu yeni doğan tarama testleriyle tanı almaktadır. KF hayat boyu ve yaşam süresini kısıtlayan bir hastalık olmakla birlikte organize merkezlerde multidisipliner yaklaşım, kalite kontrol ve araştırmayla yaşam süresi ve kalitesi ciddi miktarda artmıştır. Son yıllarda KFTR defektini direkt olarak hedefleyen ve fonksiyonunu restore eden moderatör ilaçların geliştirilmesiyle sağ kalımın daha da artması beklenmektedir.


Anahtar Kelimeler: Kistik fibrozis, genetik hastalık, yeni doğan tarama testi, kronik akciğer hastalığı, multidisipliner yaklaşım, sağ kalım
DOI :10.26650/B/CH32.2024.010.018   IUP :10.26650/B/CH32.2024.010.018    Tam Metin (PDF)

Follow-up and Community Care of the Child with Cystic Fibrosis

Demet Toprak

Cystic fibrosis (CF) is an autosomal recessive genetic disease caused by a mutation in the gene coding the cystic fibrosis transmembrane conductance regulator (CFTR) protein. CF is one of the most common diseases among Caucasians. Classic CF is characterized by exocrine pancreatic insufficiency and chronic infection in the endobronchial airway. If not managed adequately, pulmonary involvement results in progressive bronchiectasis and end-stage lung disease, leading to death. Other complications related to CF are sinusitis, diabetes mellitus, intestinal obstruction, hepatobiliary disease, hyponatremic dehydration, and infertility. Management strategies include chest physiotherapy, which increases mucociliary clearance and aggressively treats infections, and have progressively improved life expectancy in patients with CF. CF is diagnosed by elevated levels of chloride ions in sweat and positive genetic testing. However, most cases are identified through newborn screening. CF is a lifelong, lifelimiting disease that requires an organized network of care centers implementing a multidisciplinary approach and quality improvement initiatives, to significantly improve survival and quality of life. Recently developed modulatory drugs that directly target the underlying CFTR defect and restore CFTR function ensure increased survival benefits.


Anahtar Kelimeler: Cystic fibrosis, genetic disease, newborn screen, chronic lung disease, multidisciplinary approach, survival

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