Ai?levi? Akdeni?z Ateşli? Bi?r Olguda C1-İnhi?bi?tör Eksi?kli?ği?
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Tarih
2009
Yazarlar
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Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
C1 inhibitor (C1-INH) eksikliği ilk kez 1881 yılında tanımlanmıstır. Hastalığın pre- valansının 1/50000 olduğu tahmin edilmektedir. CI-INH eksikliği nadir görülmesine rağmen, birçok hastalığın seyri sırasında da gelisebilmektedir. On yasında kız hasta hastanemize yüzünde ve ellerinde sislik ve karın ağrısı sikayetiyle basvurdu. Hasta 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 ve 2 gün içinde kendiliğinden düzeliyormus. Laboratuvar incelemelerinde kompleman C4 seviyesi 5mg/dl (normal sımır: 10-40mg/dl), CI-INH düzeyi 0,08 g/L (normal sınır: 0,15-0,35 g/L) idi. Hastaya CI-INH eksikliği tanısı konuldu. Traneksamik asit tedavisi baslandı. Hastanın altı aylık takibi süresince, sadece bir kez hafif bir anjioö- dem atağı görüldü. Bildiğimiz kadarı ile CI-INH eksikliği ve FMF birlikteliği daha önceden bildirilmemistir. Bu yazıda FMF seyri sırasında CI-INH eksikliği tespit 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
C1-inhibitor deficiency, Familial Mediterranean fever, C1 Inhibitör Eksikliği, Ailevi Akdeniz Atesi
Kaynak
Gazi Medical Journal
WoS Q Değeri
Scopus Q Değeri
Q4
Cilt
20
Sayı
1
Künye
Peru, H., Akın, F., Elmacı, A. M., (2009). Ai̇levi̇ Akdeni̇z Ateşli̇ Bi̇r Olguda C1-İnhi̇bi̇tör Eksi̇kli̇ği̇. Gazi Medical Journal, 20(1), 33-34.
