Kistik fibrozis yenidoğan taraması sonrası yönlendirilen bebeklerin değerlendirilmesi: dört yıllık tek merkez deneyimi

Abstract

Giriş:

Kistik fibrozis (KF), yaşam kalitesini ve süresini olumsuz yönde etkileyen kalıtsal bir hastalıktır. Ülkemizde yenidoğan taraması topuk kanında bakılan immün reaktif tripsinojen (IRT) düzeyi yüksek bulunan bebeklerde ter testi (TT) yapılarak uygulanmaktadır. Bu çalışmada ulusal yenidoğan taraması nedeniyle merkezimize yönlendirilen bebeklerin TT yapılma ve değerlendirilme sürecinde elde ettiğimiz verileri sunmayı amaçladık.

Gereç ve yöntemler:

Bu retrospektif çalışmada Ocak 2015 - Ocak 2019 arasında merkezimize KF yenidoğan tarama testi pozitifliği nedeniyle yönlendirilen bebeklerin klinik verileri, TT ve kistik fibrozis transmembran regülatör (KFTR) geni mutasyon analizi sonuçları araştırıldı. Terde klor testi (TKT) <30 mmol/L olanlar normal, 30-59 mmol/L olanlar şüpheli yüksek, ≥60 mmol/L olanlar yüksek olarak değerlendirildi. İlk TKT’de yetersiz ter elde edilmesine veya geçersiz sonuca (TKT<10 mmol/L) rağmen ikinci TT yapılamayan bebekler çalışmaya dahil edilmedi.

Bulgular:  

Çalışma grubunu toplam 184 bebek [kız/erkek 113/71 (%61,4/%38,6)] oluşturdu. Başvuru süreleri ortancası postnatal 26 (9-98) gün, ortalama gestasyon haftası 39±1,75 hafta, ortalama doğum ağırlıkları 3300±432 gr idi. Tamamı ilk dışkısını ilk 48 saat içinde yapmıştı. Beşinde (%3,6) uzamış sarılık, ikisinde (%1,4) yenidoğan pnömonisi vardı. Yedi bebeğin (%5) kilo alımı yetersizdi. Fizik incelemede KF bulgusu olan bebek yoktu. Toplam 153 bebeğin (%83,1) ilk TKT sonucu normal, birinin (%0,5) yüksek, dokuzunun (%4,9) şüpheli yüksekti. Otuzbir hastada TKT geçersiz sonuç, yetersiz ter miktarı, yüksek/şüpheli yüksek sonuç nedeniyle tekrarlandı. Sonuç olarak 178 bebeğin (%96,7) TKT sonucu normaldi. Altı bebeğin (%3,3) ikinci TKT yüksek (n=2)/şüpheli yüksekti (n=4). KFTR mutasyon analizinde bir bebekte F508 homozigot delesyonu, üç bebekte 5T/7T/9T polimorfizmi saptandı. Bu bebeklerin üçüne tedavi başlanıldı, üçü tedavisiz izleme alındı.

Tartışma:

KF hastalarını erken dönemde saptayıp tedavilerine başlanmasını sağlayarak mortalite ve morbiditede azalma sağlaması beklenen yenidoğan taraması bunu ancak standardize TT uygulanması ve sonuçların dikkatli yorumlanması ile sağlayabilecektir. TT uygulayan merkezlerin TT yöntemlerini ve sonuçlarını içeren verileri paylaşması sistemin otokontrolünü sağlamak açısından önemlidir.

Keywords

• kistik fibrozis,ter testi

Evaluation of patients referred following cystic fibrosis newborn screening: Four year experience of a single-center

Abstract

Objective: Cystic fibrosis (CF) is an inherited disorder which has negative impact on life span and quality. Newborn

screening (NBS) is carried out by sweat chloride test (SCT) in babies with high immunoreactive trypsinogen (IRT) values.

We aimed to present our data consisting of application and evaluation of sweat chloride test in babies referred to our

center with two elevated IRT levels following national NBS.

Material and Methods: This retrospective study evaluated clinical data, sweat chloride test and CF transmembrane

regulator (CFTR) gene mutation analysis results of referred infants due to positive CF NBS between January 2015–

January 2019. Sweat chloride test results were interpreted as normal (<30mmol/L), intermediate (30-59 mmol/L) or high

(≥60mmol/L). Infants missing a second test despite an initial invalid result (<10 mmol/L) or inadequate sweat collection

were not included.

Results: The study group consisted of 184 infants of female/male ratio as 113/71(61.4/38.6%). The median admission

time was postnatal 26 (9-98) days. The mean gestational week was 39 ± 1.75 weeks and mean birth weight was 3300

± 432 grams. All infants passed their first stool in 48 hours at most. Five infants (3.6%) faced prolonged jaundice and

two (1.4%) had neonatal pneumonia. Weight gain was insufficient in seven (5%) infants. No infant showed physical

examination findings consistent with CF. First SCT was normal (n=153, 83.1%), intermediate (n=9, 4.9%) or high (n=1,

0.5%). Thirty-one infants had the second test because of inadequate sweat collection, invalid or high/intermediate

range initial result. Consequently, 178 infants (96.7%) reflected normal results. Repeated SCT was high (n=2, 1.1%)/

intermediate (n=4, 2.2%) in six (3.3%) infants. CFTR mutation analysis revealed one homozygote F508 deletion and

three 5T/7T/9T polymorphisms. Three patients received treatment while three were conservatively followed-up.

Conclusion: NBS can provide early diagnosis of patients with CF if standardized implementation and careful interpretation

of sweat chloride test are achieved. Sharing of data by centers performing sweat chloride test is extremely important for the assurance of interoperability of the system.

Keywords

• cystic fibrosis,neonatal screening

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