Ailevi akdeniz ateşli bir olguda C1-inhibitör eksikliği
Küçük Resim Yok
Tarih
2009
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info:eu-repo/semantics/openAccess
Özet
C1 inhibitör (C1-INH) eksikliği ilk kez 1881 yılında tanımlanmıstır. Hastalığın pre valansının 1/50000 olduğu tahmin edilmektedir. C1-INH eksikliği nadir görülmesin rağmen, birçok hastalığın seyri sırasında da gelisebilmektedir. On yasında kız hast hastanemize yüzünde ve ellerinde sislik ve karın ağrısı sikayetiyle basvurdu. Hast beş yıl önce ailevi Akdeniz atesi (FMF) tanısı almıstı ve kolsisin tedavisi kullanmak taydı. Ellerinde ve yüzündeki sislikler üç yıldır bir ya da iki ayda bir kere oluyor v 2 gün içinde kendiliğinden düzeliyormus. Laboratuvar incelemelerinde komplema C4 seviyesi 5mg/dl (normal sınır: 10-40mg/dl), C1-INH düzeyi 0,08 g/L (norma sınır: 0,15-0,35 g/L) idi. Hastaya C1-INH eksikliği tanısı konuldu. Traneksamik asi tedavisi baslandı. Hastanın altı aylık takibi süresince, sadece bir kez hafif bir anjioö dem atağı görüldü. Bildiğimiz kadarı ile C1-INH eksikliği ve FMF birlikteliği dah önceden bildirilmemistir. Bu yazıda FMF seyri sırasında C1-INH eksikliği tespi edilen bir olgu sunulmustur.
The clinical syndrome caused by C1-inhibitor (C1-INH) deficiency was first desc- ribed in 1881. The prevalence of the disease has been estimated to be 1/50,000. Although it is a rare disorder, C1-INH deficiency may develop during the course of diverse diseases. A 10-year-old girl was referred to our hospital because of swelling on her face and hands and abdominal pain. She had been diagnosed with familial Mediterranean fever (FMF) 5 years previously and treated with colchicine. The patient had had swelling on her face and hands monthly or bimonthly since 3 years old and the symptoms had been resolving without treatment within 1-2 days. Laboratory investigations revealed that her C4 complement level was 5 mg/dl (normal range: 10-40 mg/dl) and C1-INH level was 0.08 g/L (normal range: 0.15-0.35 g/L). C1-INH deficiency was diagnosed. Treatment with tranexamic acid was started. During the follow-up for 6 months she had only one mild attack of angioedema. To our knowledge, the coexistence of C1-INH deficiency and FMF has not been previously reported. We herein present a patient with C1-INH deficiency that developed during the clinical course of FMF.
The clinical syndrome caused by C1-inhibitor (C1-INH) deficiency was first desc- ribed in 1881. The prevalence of the disease has been estimated to be 1/50,000. Although it is a rare disorder, C1-INH deficiency may develop during the course of diverse diseases. A 10-year-old girl was referred to our hospital because of swelling on her face and hands and abdominal pain. She had been diagnosed with familial Mediterranean fever (FMF) 5 years previously and treated with colchicine. The patient had had swelling on her face and hands monthly or bimonthly since 3 years old and the symptoms had been resolving without treatment within 1-2 days. Laboratory investigations revealed that her C4 complement level was 5 mg/dl (normal range: 10-40 mg/dl) and C1-INH level was 0.08 g/L (normal range: 0.15-0.35 g/L). C1-INH deficiency was diagnosed. Treatment with tranexamic acid was started. During the follow-up for 6 months she had only one mild attack of angioedema. To our knowledge, the coexistence of C1-INH deficiency and FMF has not been previously reported. We herein present a patient with C1-INH deficiency that developed during the clinical course of FMF.
Açıklama
Anahtar Kelimeler
Genel ve Dahili Tıp
Kaynak
Gazi Medical Journal
WoS Q Değeri
Scopus Q Değeri
Cilt
20
Sayı
1
