Çocuklarda nadir faktör eksiklikleri: Tek merkezden 23 vakanın gözden geçirilmesi

Öz

Amaç: Nadir faktör eksikliğinin (NFE) prevalansı genel popülasyonda 500,000-2,000,000'de birdir. Hafif veya orta dereceli kanamalardan şiddetli ve hayatı tehdit eden kanamalara kadar farklı semptomlar ortaya çıkabilir. Bu çalışmanın amacı tek bir Türk merkezinde RFD'li çocukları değerlendirmektir. Materyal ve Metot: Nadir faktör eksikliği (Faktör I, V, VII, X, XIII eksikliği) olan çocukların kayıtları retrospektif olarak değerlendirildi. Bulgular: Yirmi üç olgu (%70 kadın) retrospektif olarak incelendi. İnceleme sırasında hastaların ortalama yaşı 9.52 idi ve ortalama takip süresi 66.3 aydı. En yaygın faktör (F) eksiklikleri FVII (%35) ve FX (%35) idi. Anne baba akrabalığı %65 oranında mevcuttu. En sık görülen semptomlar mukokutanöz kanama ve epistaksis idi. Tedavi açısından iki hastaya taze donmuş plazma (TDP), bir hastaya FXIII konsantresi, iki hastaya protrombin kompleks konsantresi (PCC) verildi. Tekrarlayan kanaması olan hastalara profilaksi başlandı. Profilaksi alan 16 kişiden üçü TDP, yedisi rekombinant pıhtılaşma faktörü VIIa ve altısı PCC aldı. Sonuç: Hastaların beşte birine tedavi verilirken, yaklaşık dörtte üçüne profilaksi uygulandı. Bu hastaların büyük çoğunluğunda anne baba akrabalığı mevcut olduğundan ayrıntılı aile öyküsünün alınması tanıya yardımcı olabilir.

Anahtar Kelimeler

• Çocuk
• faktör
• kanama
• nadir faktör eksiklikleri

Rare factor deficiencies in children: A review of 23 cases from a single center

Abstract

Objective: The prevalence of rare factor deficiency (RFD) is one in 500.000-2.000.000 in the general population. Different symptoms may occur from mild or moderate bleeding to severe and life-threatening bleeding. This study aimed to evaluate children with RFD in a single Turkish center. Materials and Methods: The records of children with RFD (Factor I, V, VII, X, XIII deficiency) were evaluated retrospectively. Results: Twenty-three cases (70% female) were reviewed. The mean age of patients was 9.52 years at review, and mean follow-up was 66.3 months. The most common factor (F) deficiencies were FVII (35%) and FX (35%). Parental consanguinity was present in 65%. The most common symptoms were mucocutaneous bleeding and epistaxis. Regarding treatment, fresh frozen plasma (FFP) was given to two patients, FXIII concentrate was given to one patient, and prothrombin complex concentrate (PCC) was given to two patients. Prophylaxis was started in patients with recurrent bleeding. Of the 16 receiving prophylaxis, three received FFP, seven received recombinant coagulation factor VIIa, and six received PCC. Conclusion: Treatment was given to a fifth of patients while nearly three-quarters received prophylaxis. As parental consanguinity was present in most of these patients, obtaining a detailed family history may aid in diagnosis.

Keywords

• Child
• factor
• hemorrhage
• rare factor deficiencies

Kaynakça

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