@article{article_639573, title={EVALUATION OF CHILDREN WITH CYSTIC FIBROSIS IN TERMS OF DEMOGRAPHIC, CLINICAL AND GENETIC CHARACTERISTICS}, journal={Van Sağlık Bilimleri Dergisi}, volume={12}, pages={13–19}, year={2019}, author={Eşki, Aykut and Kartal, Gökçe Öztürk and Demir, Esen and Gülen, Figen}, keywords={Kistik fibrozis,Pseudomonas aeruginosa,solunum fonksiyon testi,yenidoğan tarama testi}, abstract={<p> <span style="font-size:10pt;line-height:115%;font-family:’Times New Roman’, serif;">Cystic fibrosis is a
chronic, progressive, and life-limiting genetic disease in the Caucasian
population. The incidence is estimated as 1/3000-3500 in Turkey. We aimed to
summarize the demographic, clinical and genetic characteristics of our patients
to increase the awareness of clinicians. We conducted a retrospective study in
children diagnosed with cystic fibrosis between 2002-2019. There were 180
patients, and the median age at diagnosis was 3,5 months. Consanguinity and
family history was present in 37,5% and 21,6% patients, respectively. Acute/chronic/recurrent
respiratory abnormalities (54,7%), newborn screening test positivity (54,2%)
and Pseudo-Bartter syndrome (31,3%) were the most common manifestations at the
admission. The median sweat chloride concentration was 103 mmol/l (20-145
mmol/l). Of the 77 patients who underwent the pulmonary function test, the
median predicted forced expiratory volume 1 second was 78% (18-126), and severe
obstructive pulmonary disease was determined in 48/77 (62,3%) patients.
Mutation p.Phe508delPhe (c.1521_1523delCTT) was the most frequent variant with
an 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 and
Pseudo-Bartter syndrome are suggested to the sweat chloride test, which is the
first-tier. Although the newborn screening program has been implemented since
January 2015 in Turkey, the sweat chloride test that is the gold standard for
diagnosing should be performed in the presence of clinical suspicion, as a
newborn screening test may have false-negative results, and the patients born
before 2015 </span> <br /> </p>}, number={1}, publisher={Van Yüzüncü Yıl Üniversitesi}