Gelişme Geriliği, Kronik İshal veya Tekrarlayan Akciğer Enfeksiyonu Nedeniyle Ter Testi Taraması Sonrası Tanı Konan Kistik Fibrozisli Çocukların Klinik ve Demografik Özellikleri

Öz

Giriş: Bu çalışmada, tekrarlayan akciğer enfeksiyonu, kronik ishal ve gelişme geriliği şikayetleri ile başvuran ve özgül tanı alamayan hastalarda kistik fibrozis KF sıklığını araştırarak bu hastaların demografik, klinik ve laboratuvar özelliklerinin araştırılması amaçlandı. Gereç ve Yöntem: Bu çalışmada, KF tanısı, KF için bir veya daha fazla karakteristik fenotopik özellik gösteren çocuklarda terde kondüktivite ölçümü yapılarak kondu. Değerlendirmede, terde klor konsantrasyonu 59 mmol/lt’nin altı negatif, 60-79 mmol/lt arası sınırda pozitif ve 80 mmol/lt’nin üzeri pozitif ter testi sonucu olarak kabul edildi. Atipik KF tanısı sınırda ter testi pozitifliğine ilave olarak genetik mutasyon, nazal potansiyel farkı ve elastaz aktivitesi gibi destekleyici faktörlerle birlikte kondu. Bulgular: Çalışmaya toplam 356 hasta dahil edildi. Yirmi hastaya %5,6 KF tanısı kondu. Hastaların yaş ortalaması 19,3±18,1 ay idi ve 234 %65,7 ’ü erkekti. Tekrarlayan akciğer enfeksiyonu ile başvuran 90 hastanın 14’üne %15,5 , kronik ishal yakınması ile başvuran 99 hastanın 10’una %10,1 ve belirgin büyüme ve gelişme geriliği olan 100 hastanın 7’sine %7 KF tanısı kondu. Tanı konan hastaların temel başvuru yakınmaları ateş, solunum sistemi yakınmaları, gelişme geriliği ve kronik ishal idi. Toplam 356 hastaya 430 ter testi yapıldı ve ölçüm sonucu 60 mmol/lt üzerinde olan 33 hastadan 20 tanesine KF tanısı konuldu. Sonuç: Kronik ishal, tekrarlayan akciğer enfeksiyonu ve gelişme geriliği ile başvuran hastalarda KF ayırıcı tanılar arasında düşünülmelidir. Beyaz ırkta yaklaşık 3000’de 1 olan KF sıklığı hasta grubumuzda %5,6 oranıyla yüksek bulunmuştur. Güncel Pediatri 2013; 11: 96-101

Anahtar Kelimeler

• Akciğer enfeksiyonu,büyüme geriliği,kistik fibrozis,kronik ishal,ter testi

Clinical and Demographic Features of Children Diagnosed with Cystic Fibrosis after Sweat Test Screening for Failure to Thrive, Chronic Diarrhea or Recurrent Pulmonary Infections

Abstract

Introduction: The aim of this study was to investigate the incidence of cystic fibrosis CF in patients with recurrent pulmonary infection, chronic diarrhea and failure to thrive having no specific diagnosis and also to investigate the demographic features, and clinic and laboratory findings of such patients. Materials and Methods: The diagnosis of CF has been established through measuring the sweat conductivity in children presenting with one or more characteristic phenotypic features of CF. A chloride concentration lower than 59 mmol/l was interpreted as negative; 60-79 as borderline and over 80 as positive. A borderline sweat test result supported with genetic mutation, nasal potential difference or elastase activity was diagnosed as atypical CF. Results: A total of 356 patients fulfilled the study criteria. Twenty 5.6% patients were diagnosed as CF. The mean age of the patients was 19.3±18.1 months and 234 65.7% of them were boys. Of the patients suffered from recurrent pulmonary infection, chronic diarrhea and failure to thrive; 15.5%, 10.1%, and 7% were diagnosed as CF, respectively. Major presenting complaints were fever, respiratory tract diseases, failure to thrive, and chronic diarrhea in patients with CF. A total of 430 sweat tests were applied to 356 patients and 20 of the 33 patients with a test resulting over 60 mmol/L were diagnosed as CF. Conclusions: CF should be considered for the differential diagnosis of the patients presented with chronic diarrhea, recurrent pulmonary infection, and failure to thrive. While the incidence of CF in white people is approximately 1 in 3000 individuals, we found a higher rate of 5.6% in our study group. Journal of Current Pediatrics 2013; 11: 96-101

Keywords

• Chronic diarrhea,cystic fibrosis,failure to thrive,pulmonary infection,sweat test

Kaynakça

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