Publication: Adolesan ve erişkin dönemde kistik fibroz
Abstract
Gelişmiş ülkelerde yeni tedavilerin kullanımıyla kistik fibrozlu (KF) hastaların ortalama yaşam süresi 30 yıla kadar uzamıştır. Ülkemizde ise KF’nin sıklığına ilişkin bir bilgi mevcut değildir ve çok az sayıda erişkin hasta vardır. Bu çalışmada, Marmara Üniversitesi Çocuk Göğüs Hastalıkları Bilim Dalı’nda izlenen 15 adolesan ve erişkin KF’li (5 kız, 10 erkek) hastanın klinik özellikleri ve tedavi yaklaşımları sunulmaktadır. Hastalara KF tanısı klinik semptomlar ve pozitif ter testi ile konulmuştur (ter klor konsantrasyonu >60mEq/L). Hastalarımızın şu andaki ortalama yaşı 18.9±4.8 (15-28) yıl olup 4.6±3.0 (1-12) yıldır kliniğimizde izlenmektedirler. Hastaların semptomlarının başlama yaşı 2.3±3.7 (0-13) yıl olmasına karşın tanı konulma yaşları 11.3±7.1 (0.2-27) yıl olarak saptandı. Başvuru semptomları; öksürük (%93), hırıltı (%14.3) ve balgamdı (%66.7). Hastalarımızın %20’sinde akraba evliliği ve %33.3’ünde kardeş ölüm öyküsü vardı. Solunum fonksiyon testlerinde, FEV1 57.7±27 (% beklenen değer) ve FVC 64.1±28.3’tü; %26 hasta ağır (FEV1 <%40 beklenen), %33 hasta orta (FEV1 %41-%69 beklenen) ve %41 hasta hafif (FEV1 >%70 beklenen) gruba giriyordu. Balgam kültürlerinde %26.7 normal şora, %13.3 (n=2) S. aureus, %60 (n=9) P. aeruginosa üremesi saptandı. %20 hastada (n=3) karaciğer fonksiyon testlerinde persistan yükseklik mevcuttu. Hastalarımızın %53.3’ü (n=8) balgam yoğunluğunu azaltmak amacıyla nebülize DNAaz (Pulmozyme®), %60’ı (n=9) Pseudomonas kolonizasyonu nedeniyle nebülize tobramisin kullanmaktaydı. Pankreatik yetmezliği olan %80 (n=12) hasta Kreon® ile pankreatik enzim replasmanı alıyordu. Hastalardan biri izlem süresinde kaybedildi. Sonuç olarak, hastalarımıza semptomlarının başlama yaşı oldukça küçük olmasına karşın, ortalama 8 yıl sonra tanı konulabilmiştir. Erken dönemde tanı ve tedavi, hastalığın morbidite ve mortalitesini azaltmaktadır. Bu nedenle hem erişkin hem de çocuk hekimlerinin KF ile ilgili bilgi ve deneyimlerinin artması bu hastalara daha erken dönemde tanı konulmasını ve tedavi uygulanmasını sağlayacaktır.
Life expectancy of cystic fibrosis (CF) patients increased up to 30 years in developed countries with the new treatment modalities. There are no clear data about the incidence of CF in Turkey and there are few adult CF patients. In this study; clinical characteristics and treatment modalities of 15 adolescent and adult CF patients who had been followed at Marmara University, Division of Pediatric Pulmonology are reported. CF was diagnosed with a positive sweat test (sweat Chloride &#8805; 60 mEq/L) in the presence of clinical symptoms. Mean age of our patients is now 18.9±4.8 (15-28) years and these patients had been followed in our clinic for a mean duration eksof 4.6±3.0 (1-12) years. Although the symptoms started at the age of 2.3±3.7 (0-13) years, mean age of diagnosis was 11.3±7.1 (0.2-27) years. Presenting symptoms were cough (93%), wheezing (14.3%) and sputum (66.7%). There was consanguinity in 20% and history of sibling deaths in 33.3% of our patients. Pulmonary function tests revealed mean FEV1 of 57.7±27%predicted, and mean FVC of 64.1±28.3. Based on pulmonary function tests, patients were classified as severe (26% had FEV1<40%), moderate (33% had FEV1 of 41%- 69%), and mild (41% had FEV1 >70%). Sputum cultures were positive for S. aureus in 13.3% (n=2) and for P. aeruginosa in 60% (n=9) of patients. Liver enzyme levels were persistently elevated in 20% (n=5). Nebulized DNAse (Pulmozyme&#8220;) was used to reduce the sputum viscosity in 53.3% (n=8) and nebulized tobramycin was used for patients who were colonized with P. aeruginosa (60% (n=9). Pancreatic insufficiency was present in 80% (n=12) of patients who used Kreon for pancreatic enzyme replacement. One patient died during follow up, all other patients are still followed. In conclusion, although these patients had symptoms starting at the early ages, CF was diagnosed 8 years after the symptoms started. Since the early diagnosis and treatment reduces mortality and morbidity of CF, pediatricians and adult physicians in our country should be educated in diagnosing and treating this disease.
Life expectancy of cystic fibrosis (CF) patients increased up to 30 years in developed countries with the new treatment modalities. There are no clear data about the incidence of CF in Turkey and there are few adult CF patients. In this study; clinical characteristics and treatment modalities of 15 adolescent and adult CF patients who had been followed at Marmara University, Division of Pediatric Pulmonology are reported. CF was diagnosed with a positive sweat test (sweat Chloride &#8805; 60 mEq/L) in the presence of clinical symptoms. Mean age of our patients is now 18.9±4.8 (15-28) years and these patients had been followed in our clinic for a mean duration eksof 4.6±3.0 (1-12) years. Although the symptoms started at the age of 2.3±3.7 (0-13) years, mean age of diagnosis was 11.3±7.1 (0.2-27) years. Presenting symptoms were cough (93%), wheezing (14.3%) and sputum (66.7%). There was consanguinity in 20% and history of sibling deaths in 33.3% of our patients. Pulmonary function tests revealed mean FEV1 of 57.7±27%predicted, and mean FVC of 64.1±28.3. Based on pulmonary function tests, patients were classified as severe (26% had FEV1<40%), moderate (33% had FEV1 of 41%- 69%), and mild (41% had FEV1 >70%). Sputum cultures were positive for S. aureus in 13.3% (n=2) and for P. aeruginosa in 60% (n=9) of patients. Liver enzyme levels were persistently elevated in 20% (n=5). Nebulized DNAse (Pulmozyme&#8220;) was used to reduce the sputum viscosity in 53.3% (n=8) and nebulized tobramycin was used for patients who were colonized with P. aeruginosa (60% (n=9). Pancreatic insufficiency was present in 80% (n=12) of patients who used Kreon for pancreatic enzyme replacement. One patient died during follow up, all other patients are still followed. In conclusion, although these patients had symptoms starting at the early ages, CF was diagnosed 8 years after the symptoms started. Since the early diagnosis and treatment reduces mortality and morbidity of CF, pediatricians and adult physicians in our country should be educated in diagnosing and treating this disease.