Follow-Up and Community Care of the Child With a Chronic Disease

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DOI :10.26650/B/CH32.2024.010.021   IUP :10.26650/B/CH32.2024.010.021    Full Text (PDF)

Follow-up and Community Care of the Child with Familial Mediterranean Fever

Fatma Gül Demirkan, Nuray Aktay Ayaz

Familial Mediterranean fever (FMF) is currently the oldest and most common of all hereditary periodic fever syndromes described. It is characterized by recurrent episodes of fever, abdominal, and chest or joint pain. FMF is associated with mutations in the MEFV gene, which encodes pyrin. Its diagnosis is based on clinical features. Periodic symptoms begin abruptly without any stimulus and often disappear spontaneously within 1–3 days. Attacks usually begin before the age of 20. Between attacks, a completely “healthy” period is observed in terms of clinical symptoms. The mainstay of treatment is colchicine given daily for a lifetime to prevent the recurrence of febrile attacks. Anti–inerleukin-1 agents are the second-line treatment option in patients who respond inadequately to colchicine. The most important cause of FMF morbidity and mortality is amyloidosis resulting in renal failure. Given that FMF often starts at an early age and is chronic, it emerges as an important health problem in childhood. In some children, heavy sports or prolonged standing can trigger attacks, which can be severe at times. Although diet modification is not required while under treatment or during their attacks, children using colchicine can possibly develop secondary lactose intolerance. Nonetheless, gastrointestinal system complaints can be controlled with a lactose-free diet. The following section discusses the follow-up of children with FMF, the effect of the disease on school life, immunization recommendations, and the psychosocial effects of FMF.


Keywords: Familial Mediterranean fever, colchicine, pyrin
DOI :10.26650/B/CH32.2024.010.021   IUP :10.26650/B/CH32.2024.010.021    Full Text (PDF)

Ai̇levi̇ Akdeni̇z Ateşi̇ Olan Çocuğun İzlemi̇ ve Toplumda Bakımı

Fatma Gül Demirkan, Nuray Aktay Ayaz

Ailevi Akdeniz Ateşi, bu zamana kadar tanımlanan tüm kalıtsal periyodik ateş sendromlarının en eskisi ve en sık görülenidir. Ateş, karın, göğüs ya da eklem ağrısının tekrarlayan atakları ile karakterize bir hastalıktır. Hastalığın pirin adlı bir proteini kodlayan MEFV genindeki mutasyonlar sonucu geliştiği bilinmektedir. Ailevi Akdeniz Ateşi tanısı klinik olarak konur. Periyodik olarak ortaya çıkan bulgular bir uyaran olmaksızın aniden başlar ve sıklıkla 1-3 gün içinde kendiliğinden kaybolur. Ataklar genelde 20 yaşından önce başlar. Ataklar arasında klinik belirtiler açısından tamamen ‘sağlıklı’ bir dönem yaşanır. Tedavinin temeli, ateşli atakların ortaya çıkmasını engellemek için her gün ömür boyu kullanılan oral kolşisindir. Kolşisine yetersiz yanıt veren hastalar, interlökin-1 bloke eden ajanlar ile tedavi edilebilir. En önemli morbidite ve mortalite nedeni renal yetmezlik ile sonuçlanan amiloidozdur. Hastalık sıklıkla erken yaşlarda başladığı ve kronik bir seyri olduğu için çocukluk çağında önemli bir sağlık sorunu olarak ortaya çıkmaktadır. Bazı çocuklarda ağır sporlar ya da uzun zaman ayakta kalmak Ailevi Akdeniz Ateşi ataklarını tetikleyebilir veya ortaya çıkacak bir atağın şiddetli geçmesine neden olabilir. Çocukların tedavi altındayken ya da atakları sırasında beslenme düzenlerinde herhangi bir değişiklik yapmalarına ihtiyaç yoktur. Bazen kolşisin kullanan çocuklarda sekonder laktoz intoleransı gelişebildiği için laktozsuz diyetle sindirim sistemi şikâyetleri kontrol altına alınabilir. Bu bölümde Ailevi Akdeniz Ateşi hastalığı olan çocukların izlemi, okul yaşantılarına hastalığın etkisi, bağışıklama önerileri ve hastalığın psikososyal etkileri tartışılacaktır.


Keywords: Ailesel Akdeniz ateşi, kolşisin, pirin

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