The Investigation of the Effect of Electrolyte Disorder on Sweat Test in Newborns with Positive Cystic Fibrosis Screening

Year 2024, Volume: 34 Issue: 4, 500 - 505, 31.08.2024

Esra Erdinc , Nazan Karaoğlu , Sevgi Pekcan , Elif Nur Yıldırım Öztürk

https://doi.org/10.54005/geneltip.1459796

Abstract

Background and objectives: The aim of this study is to investigate the effect of the electrolyte and acid-base status present at the time of admission to the hospital on the sweat test (ST) of the patients who were found to have a positive newborn screening test (NST) for Cystic Fibrosis (CF).
Methods: The patients who referred to pediatric pulmonology clinic for ST with positive NST for CF and diagnosed as CF were analyzed retrospectively. From the medical records acid-base status measured simultaneously with the ST and with serum sodium, potassium, and chloride levels were included in the study.
Results: The study completed with 37 patients who met the inclusion criteria. At the time of ST, the mean sodium, potassium and chlorine values were 134.83±4.25 (122.0-141.0), 4.94±0.95 (2.9-7.6) and 97.72±12.40 (64.0-116.0) mEq/L, respectively. Patients whose electrolytes were measured at the time of diagnosis, 27.0% (n=10) had hyponatremia, 8.1% (n=3) had hypokalemia, and 4.8% (n=1) had hypochloremia. There was a significant difference between serum chloride and bicarbonate levels according to the negative, borderline, positive ST groups (p=0,036). In addition, no significance detected between the sweat test values of patients with Pseudo-Bartter Syndrome (PBS) (38.7%) and without.
Conclusion: The chloride level during ST is lower in patients with borderline and negative ST results. The mean potassium and chloride values of the patients with PBS are lower while the mean bicarbonate value is higher. This may cause false negative results in ST. So, it is important to check the serum electrolyte levels before the ST is performed in the newborn screening positive baby.

Keywords

cystic fobrosis, sweat test, newborn screening, serum electrolytes, pseudo Bartter syndome

Ethical Statement

The study was approved by the Ethics Committee of Necmettin Erbakan University Meram Medical Faculty (Number: 2019/1826 Date: 10.05.2019).

Kistik Fibrozis Taraması Pozitif Yenidoğanlarda Elektrolit Bozukluğunun Ter Testine Etkisinin Araştırılması

Abstract

Giriş ve Amaç: Kistik Fibrozis (KF) yenidoğan tarama testi pozitif olup ter testi yapılması için yönlendirilen hastaların başvuru anındaki elektrolit ve kan gazı değerlerinin ter testi üzerindeki etkisini araştırmak.
Yöntemler: Çocuk göğüs hastalıkları polikliniğine kistik fibrozis için yenidoğan tarama testi pozitif olan ter testi nedeniyle başvuran ve kistik fibrozis tanısı almış olan hastalar retrospektif olarak incelendi. Tıbbi kayıtlarda ter testi ile eş zamanlı ölçülen asit-baz değerleri, serum sodyum, potasyum ve klorür düzeyleri olan hastalar çalışmaya dahil edildi.
Bulgular: Çalışma, dahil edilme kriterlerini karşılayan 37 hasta ile tamamlandı. Ter testi sırasında ortalama sodyum, potasyum ve klor değerleri sırasıyla 134,83±4,25 (122,0-141,0), 4,94±0,95 (2,9-7,6) ve 97,72±12,40 (64,0-116,0) mEq/L idi. Tanı anında elektrolitleri ölçülen hastaların %27,0’ında (n=10) hiponatremi, %8,1’inde (n=3) hipokalemi, %4,8’inde (n=1) hipokloremi vardı. Negatif, borderline ve pozitif ter testi gruplarına göre serum klorür ve bikarbonat düzeyleri arasında anlamlı fark vardı (p=0,036). Ayrıca Psödo-Bartter Sendromu (PBS) (%38,7) olan ve olmayan hastaların ter testi değerleri arasında anlamlılık saptanmadı.
Sonuç: Bu çalışma, ST anında elektrolit bozukluklarının, düşük Na, Cl değerlerinin, pH ve HCO3’ değerlerinin normalden yüksek olmasının ST sonuçlarını etkilediğini göstermektedir. Bu nedenle NST pozitif yeni doğanın ST öncesi serum elektrolit düzeylerinin kontrol edilmesi önemlidir.

Keywords

Kistik fibroz, ter testi, yenidoğan taraması, serum elektrolitleri, psödo-Bartter Sendromu.

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