📂 Diseases
familial cold autoinflammatory syndrome 4 — Definition
Ailesel Soğuk Otoinflamatuvar Sendromu Tip 4 / familial cold autoinflammatory syndrome 4
Family Cold Otoinflamatory Syndrome Type 4 is a rare autoinflamatory disease caused by mutations in the NLRP12 gene. It is characterized by episodic symptoms such as fire, rash and joint pain after exposure to cold. The disease leads to inflammation attacks as a result of excessive activation of the innate immune system. Otozomal indicates dominant inheritance and usually gives a symptom in childhood.
Disease Definition
🔬 Disease Definition
Familial cold autoinflammatory syndrome 4 (FCAS4), NLRP12 genindeki mutasyonlardan kaynaklanan, soğuğa maruz kalma ile tetiklenen, tekrarlayan ateş, döküntü ve eklem ağrısı atakları ile karakterize otoinflamatuar bir hastalıktır.
🧬 Causes & Risk Factors
NLRP12 genindeki fonksiyon kazandıran mutasyonlar, inflamazom aktivasyonunun artmasına ve interlökin-1 beta (IL-1β) üretiminin kontrolsüz yükselmesine yol açar.
🩺 Symptoms & Signs
Soğuğa maruziyetten saatler sonra başlayan ateş, ürtikeryal döküntü, artralji, miyalji, konjonktivit ve yorgunluk. Ataklar genellikle 12-48 saat sürer.
📋 Diagnostic Methods
Klinik bulgular, aile öyküsü ve NLRP12 gen mutasyon analizi ile konur. Akut faz reaktanlarında (CRP, SAA) yükselme görülür.
💊 Treatment Options
IL-1 antagonistleri (anakinra, kanakinumab) birinci basamak tedavidir. Soğuktan korunma semptomları azaltır. NSAİİ'ler hafif ataklarda kullanılabilir.
⚠️ Complications
Uzun dönemde AA amiloidoz riski, tedavi edilmezse böbrek yetmezliğine yol açabilir. Eklem hasarı nadirdir.
Frequently Asked Questions
❓ What is Ailesel Soğuk Otoinflamatuvar Sendromu Tip 4?
Ailesel Soğuk Otoinflamatuvar Sendromu Tip 4; family Cold Otoinflamatory Syndrome Type 4 is a rare autoinflamatory disease caused by mutations in the NLRP12 gene. It is characterized by episodic symptoms such as fire, rash and joint pain after exposure to cold. The disease leads to inflammation attacks as a result of excessive activation of the innate immune system. Otozomal indicates dominant inheritance and usually gives a symptom in childhood.
❓ What is familial cold autoinflammatory syndrome 4 in Turkish?
The Turkish equivalent of "familial cold autoinflammatory syndrome 4" is Ailesel Soğuk Otoinflamatuvar Sendromu Tip 4.
❓ Which medical field is Ailesel Soğuk Otoinflamatuvar Sendromu Tip 4 related to?
This term belongs to the Diseases category.