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

Yıl 2013, , 96 - 101, 01.12.2013

Çapan Konca , Ali Güneş Velat Şen Servet Yel İlyas Yolbaş Aydın Ece Mehmet Fuat Gürkan

https://doi.org/10.4274/Jcp.11.25743

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

Öz

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

Anahtar Kelimeler

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

Kaynakça

• 1. Welsh MJ, Tsui L, Boat TF, et al. Cystic fibrosis. In Seriver CR, Beaudet AL, Sly WS, et al., eds. The metabolic and molecular bases of inherited disease. 7th ed. New York: McGraw Hill, 1995:3799-3876.
• 2. Lannuzzi MC, Cystic fibrosis: Genetics. In: Davis PB, ed. Cystic fibrosis. New York: Marcel Dekker, 1993;1-27.
• 3. Stern RC. The diagnosis of cystic fibrosis. N Engl J Med 1997;336:487-91.
• 4. Wallis C. Diagnosing cystic fibrosis: blood, sweat, and tears. Arch Dis Child 1997;76:85-8.
• 5. Rosenstein BJ, Cutting GR. The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. J Pediatr 1998;132:589-95.
• 6. Davis PB, Drumm M, Konstant MW. Cystic fibrosis: State of the art. Am J Respir Crit Care Med 1996;154:1229-56.
• 7. Wald ER. Recurrent and nonresolving pneumonia in children. Semin Respir Infect 1993;8:46-58.
• 8. Shwachman H, Kulczycki LL. Long term study of one hundred five patients with cystic fibrosis. AMA J Dis Child 1958;96:6-15.
• 9. Benden C, Wallis C, Owens CM, Ridout DA, Dinwiddie R. The Chrispin-Norman score in cystic fibrosis: doing away with the lateral view. Eur Respir J 2005;26:894-7.
• 10. Neyzi O, Günöz H, Furman A, Bundak R, Gökçay G, Darendeliler F, ve ark. Türk çocuklarında vücut ağırlığı, boy uzunluğu, baş çevresi ve vücut kitle indeksi referans değerleri. Çocuk Sağlığı ve Hastalıkları Dergisi 2008;51:1-14.
• 11. Cystic Fibrosis Foundation. Patient Registery: 2004 Annual Data Report. Bethesda, MD. Cystic Fibrosis Foundation, 2005.
• 12. Walkowiak J, Nousia-Arvanitakis S, Henker J, Stern M, Sinaasappel M, Dodge JA. Indirect pancreatic function tests in children. J Pediatr Gastroenterol Nutr 2005;40:107-14.
• 13. Pawellek I, Dokoupil K, Koletzko B. Prevalence of malnutrition in paediatric hospital patients. Clin Nutr 2008;27:72-6.
• 14. Stern RC, Stevens DP, Boat TF, Doershuk CF, Izant RJ Jr, Matthews LW. Symptomatic hepatic disease in cystic fibrosis: incidence, course, and outcome of portal systemic hunting. Gastroenterology 1976;70:645-9.
• 15. Alvarez AE, Ribeiro AF, Hessel G, Bertuzzo CS, Ribeiro JD. Cystic fibrosis at a Brazilian center of excellence: clinical and laboratory characteristics of 104 patients and their association with genotype and disease severity. J Pediatr (Rio J) 2004;80:371-9.
• 16. Al-Mobaireek KF, Abdullah AM. Cystic fibrosis in Saudi Arabia: common and rare presentations. Ann Trop Paediatr 1995;15:269-72.
• 17. Devlin J, Beckett NS, David TJ. Elevated sweat potassium, hyperaldosteronism and pseudo-Bartter’s syndrome: a spectrum of disorders associated with cystic fibrosis. J R Soc Med 1989;82 Suppl 16:38-43.
• 18. Simopoulos AP, Lapey A, Boad TF, Santagnese PAD, Bartter FC. The renin-angiotensin-aldosterone system in patients with cystic fibrosis of the pancreas. Pediatr Res 1971;5:626-8.
• 19. De Boeck K, Wilschanski M, Castellani C, Taylor C, Cuppens H, Dodge J, et al. Cystic fibrosis: terminology and diagnostic algorithms. Thorax 2006;61:627-35.
• 20. Wallis C. Diagnosis and presentation of cystic fibrosis. In: Chernick V, Boat TF, Wilmolt RW, and Bush A, eds. Kendig’s Disorders of the Respiratory Tract in Children. 7th Ed. Philadelphia: W.B. Saunders; 2006. p.866-72.
• 21. Gürson CT, Sertel H, Gürkan M, Pala S. Newborn screening for cystic fibrosis with chloride electrode and neutron activation analysis. Helv Paediatr Acta 1973;28:165-74.
• 22. Cesur Y, Doğan M, Arıyuca S, Peker E, Okur M, Akbayram S, ve ark. Hastaneye Başvuran Malnutrisyonu ve/veya Tekrarlayan Akciğer Enfeksiyonu Olan Çocuklarda Kistik Fibrozis Sıklığı Araştırılması. Selçuk Ünv Tıp Derg 2010;26:138-41.
• 23. Çelebi S, Hacımustafaoğlu M, Albayrak Y, Bulur N. Çocuklarda Tekrarlayan Pnömoni. Çocuk Enf Derg 2010;4:56-9.
• 24. Ciftci E, Günes M, Köksal Y, Ince E, Dogru U. Underlying Causes of Recurrent Pneumonia in Turkish Children in a University Hospital. J Trop Pediatr 2003;49:212-5.
• 25. Altuntas B, Gül H, Yarali N, Ertan U. Etiology of chronic diarrhea. Indian J Pediatr 1999;66:657-61.
• 26. Berkin KE, Alcoc SR, Stack BH. Cystic fibrosis a review of 26 adolescent and adult patients. Eur J Respir Dis 1985;67:103- 11.
• 27. Hill ID, MacDonald WB, Bowie MD, Ireland JD. Cystic fibrosis in Cape Town. S Afr Med J 1988;73:147-9.