TY  - JOUR
T1  - EVALUATION OF CHILDREN WITH CYSTIC FIBROSIS IN TERMS OF DEMOGRAPHIC, CLINICAL AND GENETIC CHARACTERISTICS
TT  - Kistik Fibrozis Tanılı Çocuk Hastaların Demografik, Klinik ve Genetik Özelliklerinin Değerlendirilmesi
AU  - Eşki, Aykut
AU  - Kartal, Gökçe Öztürk
AU  - Demir, Esen
AU  - Gülen, Figen
PY  - 2019
DA  - October
JF  - Van Sağlık Bilimleri Dergisi
JO  - Van Sağ Bil Derg
PB  - Van Yüzüncü Yıl Üniversitesi
WT  - DergiPark
SN  - 2667-5072
SP  - 13
EP  - 19
VL  - 12
IS  - 1
LA  - en
AB  - Cystic fibrosis is achronic, progressive, and life-limiting genetic disease in the Caucasianpopulation. The incidence is estimated as 1/3000-3500 in Turkey. We aimed tosummarize the demographic, clinical and genetic characteristics of our patientsto increase the awareness of clinicians. We conducted a retrospective study inchildren diagnosed with cystic fibrosis between 2002-2019. There were 180patients, and the median age at diagnosis was 3,5 months. Consanguinity andfamily history was present in 37,5% and 21,6% patients, respectively. Acute/chronic/recurrentrespiratory abnormalities (54,7%), newborn screening test positivity (54,2%)and Pseudo-Bartter syndrome (31,3%) were the most common manifestations at theadmission. The median sweat chloride concentration was 103 mmol/l (20-145mmol/l). Of the 77 patients who underwent the pulmonary function test, themedian predicted forced expiratory volume 1 second was 78% (18-126), and severeobstructive pulmonary disease was determined in 48/77 (62,3%) patients.Mutation p.Phe508delPhe (c.1521_1523delCTT) was the most frequent variant withan allele frequency of 25% (90/360). The other common variants were p.Lys684fs[c.2051_2052delAAinsG; 5,3% (19/360)], p.Glu92Lys [c.274G>A; 4,4% (16/360)]and p.Asn1303Lys [c.3909C>G; 3,9% (14/360)], respectively. In conclusion,patients presented with acute/chronic/recurrent respiratory abnormalities andPseudo-Bartter syndrome are suggested to the sweat chloride test, which is thefirst-tier. Although the newborn screening program has been implemented sinceJanuary 2015 in Turkey, the sweat chloride test that is the gold standard fordiagnosing should be performed in the presence of clinical suspicion, as anewborn screening test may have false-negative results, and the patients bornbefore 2015
KW  - Cystic fibrosis
KW  - newborn screening
KW  - pseudomonas aeruginosa
KW  - respiratory function test
N2  - Kistikfibrozis, beyaz ırkın kronik, progresif, resesif geçişli ve yaşamı sınırlayanbir genetik hastalıktır. Ülkemizde kistik fibrozis insidansı 1/300-3500 olaraktahmin edilmektedir. Klinisyenlerin farkındalığını artırmayı amacı ile kistikfibrozis tanısı alan çocuk hastaların demografik, klinik ve genetik özellikleriözetlendi. Çalışma, 2002-2019 yılları arasında kistik fibrozis tanısı alan çocuklarıiçeren retrospektif bir çalışmadır. Çalışmada 180 hasta vardı ve tanı anındaortanca yaş 3,5 aydı. Akrabalık hastaların %37,5’inde ve aile öyküsü%21,6’sında tespit edildi.Akut/kronik/tekrarlayansolunum problemi (%54,7), yenidoğan tarama test pozitifliği (%54,2) vePsödo-Bartter sendromu (%31,3) başvuruda en sık görülen tanılardı. Ortancaterde klorür konsantrasyonu 103 mmol/l’di (20-145 mmol/l). Solunum fonksiyontesti yapabilen 77 hastanın, öngörülen ortanca 1. saniye zorlu ekspiratuvarvolümü %78’di (18-126) ve ağır obstrüktif akciğer hastalığı 48/77 (%62,3)hastada tespit edildi. En sık saptanan mutasyon p.Phe508delPhe[c.1521_1523delCTT; %25 (90/360)] iken, p.Lys684fs [c.2051_2052delAAinsG; %5,3(19/360)], p.Glu92Lys [c.274G>A; %4,4 (16/360)] ve p.Asn1303Lys[c.3909C>G; 3,9% (14/360)] sırasıyla diğer sık görülen mutasyonlardı. Sonuçolarak, akut/kronik/tekrarlayan solunum problemi ve Pseudo-Bartter sendromu ilebaşvuran hastalarda birinci basamak test olan terde klor konsantrasyonuuygulanmalıdır. Ülkemizde yenidoğan tarama programı Ocak-2015’den itibarenuygulanmaya başlanmış olması ile birlikte, yenidoğan tarama testinin yanlışnegatif sonuçlarının olabileceği ve 2015 yılından önce doğmuş olan bireylerdeklinik şüphe varlığında tanı için altın standart olan ter testi yapılmalıdır.
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UR  - https://dergipark.org.tr/tr/pub/vansaglik/issue//639573
L1  - https://dergipark.org.tr/tr/download/article-file/844165
ER  -