EVALUATION OF CHILDREN WITH CYSTIC FIBROSIS IN TERMS OF DEMOGRAPHIC, CLINICAL AND GENETIC CHARACTERISTICS

Yıl 2019, Cilt: 12 Sayı: 1, 13 - 19, 29.10.2019

Aykut Eşki Gökçe Öztürk Kartal Esen Demir Figen Gülen

Öz

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

Anahtar Kelimeler

Cystic fibrosis, newborn screening, pseudomonas aeruginosa, respiratory function test

Kistik Fibrozis Tanılı Çocuk Hastaların Demografik, Klinik ve Genetik Özelliklerinin Değerlendirilmesi

Öz

Kistik
fibrozis, beyaz ırkın kronik, progresif, resesif geçişli ve yaşamı sınırlayan
bir genetik hastalıktır. Ülkemizde kistik fibrozis insidansı 1/300-3500 olarak
tahmin edilmektedir. Klinisyenlerin farkındalığını artırmayı amacı ile kistik
fibrozis tanısı alan çocuk hastaların demografik, klinik ve genetik özellikleri
özetlendi. Çalışma, 2002-2019 yılları arasında kistik fibrozis tanısı alan çocukları
içeren retrospektif bir çalışmadır. Çalışmada 180 hasta vardı ve tanı anında
ortanca yaş 3,5 aydı. Akrabalık hastaların %37,5’inde ve aile öyküsü
%21,6’sında tespit edildi.

Akut/kronik/tekrarlayan
solunum problemi (%54,7), yenidoğan tarama test pozitifliği (%54,2) ve
Psödo-Bartter sendromu (%31,3) başvuruda en sık görülen tanılardı. Ortanca
terde klorür konsantrasyonu 103 mmol/l’di (20-145 mmol/l). Solunum fonksiyon
testi yapabilen 77 hastanın, öngörülen ortanca 1. saniye zorlu ekspiratuvar
volümü %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.

Sonuç
olarak, akut/kronik/tekrarlayan solunum problemi ve Pseudo-Bartter sendromu ile
başvuran hastalarda birinci basamak test olan terde klor konsantrasyonu
uygulanmalıdır. Ülkemizde yenidoğan tarama programı Ocak-2015’den itibaren
uygulanmaya başlanmış olması ile birlikte, yenidoğan tarama testinin yanlış
negatif sonuçlarının olabileceği ve 2015 yılından önce doğmuş olan bireylerde
klinik şüphe varlığında tanı için altın standart olan ter testi yapılmalıdır.

Anahtar Kelimeler

Kistik fibrozis, Pseudomonas aeruginosa, solunum fonksiyon testi, yenidoğan tarama testi

Kaynakça

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