Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2022 Jan;64(1):e14888.
doi: 10.1111/ped.14888.

Clinical findings of patients with cystic fibrosis according to newborn screening results

Tugba Ramasli Gursoy  1 , Ayse Tana Aslan  1 , Pelin Asfuroglu  1 , Tugba Sismanlar Eyuboglu  1 , Erkan Cakir  2 , Nazan Cobanoglu  3 , Sevgi Pekcan  4 , Guzin Cinel  5 , Deniz Dogru  6 , Ugur Ozcelik  6 , Ebru Yalcin  6 , Velat Sen  7 , Omur Ercan  4 , Ayse Ayzit Kilinc  8 , Hakan Yazan  2 , Derya Ufuk Altintas  9 , Gokcen Kartal Ozturk  10 , Aysen Bingol  11 , Nihat Sapan  12 , Ebru Celebioglu  13 , Gokcen Dilsa Tugcu  5 , Ali Ozdemir  14 , Koray Harmanci  15 , Mehmet Kose  16 , Nagehan Emiralioglu  6 , Zeynep Tamay  17 , Hasan Yuksel  18 , Gizem Ozcan  3 , Erdem Topal  19 , Demet Can  20 , Pervin Korkmaz Ekren  21 , Gonul Caltepe  22 , Mehmet Kilic  23 , Sebnem Ozdogan  24
Affiliations

Clinical findings of patients with cystic fibrosis according to newborn screening results

Tugba Ramasli Gursoy et al. Pediatr Int. 2022 Jan.

Abstract

Background: Cystic fibrosis (CF) is a lethal recessive genetic disease caused by loss of function associated with mutations in the CF trans-membrane conductance regulator. It is highly prevalent (approximately 1 in 3,500) in Caucasians. The aim of this study was to compare demographic and clinical features, diagnostic tests, treatments, and complications of patients with CF whose newborn screening (NBS) with twice-repeated immune reactive trypsinogen testing was positive, normal, and not performed.

Methods: In this study, 359 of all 1,488 CF patients recorded in the CF Registry of Turkey in 2018, who had been born through the process of NBS, were evaluated. Demographic and clinical features were compared in patients diagnosed with positive NBS (Group 1), normal (Group 2), or without NBS (Group 3).

Results: In Group 1, there were 299 patients, in Group 2, there were 40 patients, and in Group 3, there were 20 patients. Among all patients, the median age at diagnosis was 0.17 years. The median age at diagnosis was higher in Groups 2 and 3 than in Group 1 (P = 0.001). Fecal elastase results were higher in Group 2 (P = 0.033). The weight z-score was lower and chronic Staphylococcus aureus infection was more common in Group 3 (P = 0.017, P = 0.004, respectively).

Conclusions: Frequency of growth retardation and chronic S. aureus infection can be reduced with an early diagnosis using NBS. In the presence of clinical suspicion in patients with normal NBS, further analyses such as genetic testing should be performed, especially to prevent missing patients with severe mutations.

Keywords: clinical features; cystic fibrosis; immunoreactive trypsinogen; newborn screening; sweat chloride test.

PubMed Disclaimer

References

    1. Ratjen F, Bell SC, Rowe SM, Goss CH, Quittner AL, Bush A. Cystic fibrosis. Nat. Rev. Dis. Primers 2015; 1: 15010.
    1. Gürson CT, Sertel H, Gürkan M, Pala S. Newborn screening for cystic fibrosis with the chloride electrode and neutron activation analysis. Helv. Paediatr. Acta. 1973; 28(2): 165-174.
    1. Dogru D, Çakır E, Şişmanlar T et al. Cystic fibrosis in Turkey: First data from the national registry. Pediatr. Pulmonol. 2020; 55: 541-8.
    1. Scotet V, Gutierrez H, Farrell PM. Newborn screening for CF across the globe-where is it worthwhile? Int J Neonatal Screen. 2020; 6(1): 18.
    1. Dijk FN, McKay K, Barzi F, Gaskin KJ, Fitzgerald DA. Improved survival in cystic fibrosis patients diagnosed by newborn screening compared to a historical cohort from the same center. Arch Dis Child. 2011; 96(12): 1118-23.

MeSH terms

Substances