genel tıp derg Genel Tıp Dergisi 2602-3741 Selcuk University 10.54005/geneltip.1459796 Clinical Sciences (Other) Klinik Tıp Bilimleri (Diğer) Kistik Fibrozis Taraması Pozitif Yenidoğanlarda Elektrolit Bozukluğunun Ter Testine Etkisinin Araştırılması The Investigation of the Effect of Electrolyte Disorder on Sweat Test in Newborns with Positive Cystic Fibrosis Screening https://orcid.org/0000-0002-9522-7333 Erdinc Esra NECMETTİN ERBAKAN ÜNİVERSİTESİ, MERAM TIP FAKÜLTESİ https://orcid.org/0000-0002-3057-2988 Karaoğlu Nazan Necmettin Erbakan University https://orcid.org/0000-0002-8059-902X Pekcan Sevgi NECMETTİN ERBAKAN ÜNİVERSİTESİ, MERAM TIP FAKÜLTESİ https://orcid.org/0000-0003-1447-9756 Yıldırım Öztürk Elif Nur NECMETTİN ERBAKAN ÜNİVERSİTESİ, MERAM TIP FAKÜLTESİ 08 31 2024 34 4 500 505 03 27 2024 08 05 2024 Copyright © 1990, Genel Tıp Dergisi 1990 Genel Tıp Dergisi

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.

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.

 cystic fobrosis sweat test newborn screening serum electrolytes pseudo Bartter syndome Kistik fibroz ter testi yenidoğan taraması serum elektrolitleri psödo-Bartter Sendromu. Gadsby DC, Vergani P, Csanády L. The ABC protein turned chloride channel whose failure causes cystic fibrosis. Nature 2006; 440: 477-83. https://doi.org/10.1038/nature04712 Gillion V, Jadoul M, Devuyst, Pochet JM. The patient with metabolic alkalosis. Acta Clin Belg.2019; 74: 34-40. https://doi.org/10.1080/17843286.2018.1539373 Candemir M, Semiz S, Ozdemir OM. Pseudo-Bartter's Syndrome in Patient with Cystic Fibrosis. Turk J Pediatr. 2008; 17: 194-197. DOİ: 10.5222/terh.2016.090 Kintu B, Brightwell A. Episodic seasonal Pseudo Bartter syndrome in cystic fibrosis. Paediatr Respir Rev. 2014; 15: 19-21. https://doi.org/10.1016/j.prrv.2014.04.0155. Yalçin E, Kiper N, Doğru D, Ozçelik U, Aslan AT. Clinical features and treatment approaches in cystic fibrosis with pseudo-Bartter syndrome. Ann Trop Paediatr. 2005; 25: 119-24. https://doi.org/10.1179/146532805X45719 Sismanlar Eyuboglu T, Dogru D, Çakır E, Cobanoglu N, Pekcan S, Cinel G et al. Clinical features and accompanying findings of Pseudo Bartter Syndrome in cystic fibrosis. Pediatr Pulmonol. 2020; 55: 2011-6. https://doi.org/10.1002/ppul.24805 Yee J. Bartter Syndrome. In: Ferri FF. Editor. Ferri's Clinical Advisor E-Book: 5 Books in Elsevier Health Sciences. 2020 pp: 211.e6-211.e7https://www.clinicalkey.com/#!/content/book/3-s2.0B9780323672542001030?scrollTo=%23hl0000098 T.R. Public Health Agency of Turkey Ministry of Health, the National Newborn Screening Program of the Cystic Fibrosis Screening Sweat Test Guide 2015. T.R. Public Health Agency of Turkey Ministry of Health, Neonatal Metabolic and Endocrine Disease Screening Program (NSP), CF flow chart. https://hsgm.saglik.gov.tr/tr/cocukergen-tp-liste/yenidogan_tarama_programi.html Egan M. Cystic Fibrosis. In: Kliegman RM, Stanton BF, Geme JW, Schor NF, Behrman RE (Eds). Nelson Textbook of Pediatrics. 19th Edition, Philadelphia; Elsevier Saunder. 2011 pp 1481-1497. Beers MH, Porter RS editors. The Merck manual of diagnosis and therapy (18th ed.). 2006; Merck Research laboratories; Division of Merck & Co. Inc. Whitehouse Station NJ. Cystic Fibrosis Foundation (2013). 2012 Annual Data Report. Bethesda, MD: Cystic Fibrosis Foundation Patient Registry Viviani L, Zolin A, Mehta A, Olesen HV. European Cystic Fibrosis Society Patient Registry Annual Data Report. 2012; 2008–2009. Karup: European Cystic Fibrosis Society. Fallahi G, Najafi M, Farhmand F, et al. The clinical and laboratory manifestations of Iranian patients with cystic fibrosis. Turk J Pediatr. 2010; 52: 132-8. PMID: 20560247 Fustik S, Pop-Jordanova N, Slaveska N, Koceva S, Efremov G. Metabolic alkalosis with hypoelectrolytemia in infants with cystic fibrosis. Pediatr Int. 2002; 44: 289-92. https://doi.org/10.1046/j.1442-200X.2002.01563.x Ozçelik U, Göçmen A, Kiper N, Coşkun T, Yilmaz E, Ozgüç M. Sodium chloride deficiency in cystic fibrosis patients. Eur J Pediatr.1994; 153:829-31. https://doi.org/10.1007/BF01972892 Edmondson C, Grime C, Prasad A, Cowlard J, Nwokoro CEC, Ruiz G, et al. Cystic fibrosis newborn screening: outcome of infants with normal sweat tests. Arch Dis Child. 2018; 103: 753-6. http://dx.doi.org/10.1136/archdischild-2017-313290 Erdem M, Zorlu P, Acar M, Senel S. Evaluation of demographic and clinical characteristics of patients with cystic fibrosis. Turkish Journal of Pediatric Diseases. 2013; 3: 134-7. DOI:10.12956/tjpd.2013.3.06 Tutar E, Boran P, Öktem S, Akıncı Ö, İlk S, Güven S. Pseudo-Bartter syndrome in patients with cystic fibrosis. Turk J Pediatr. 2012; 6: 206-10. Dahabreh MM, Najada AS. Pseudo-bartter syndrome, pattern and correlation with other cystic fibrosis features. Saudi J Kidney Dis Transpl. 2013; 24: 292-6. DOI: 10.4103/1319-2442.109579 Devlin J, Beckett NS, David TJ (1989) Elevated sweat potassium, hyperaldosteronism and pseudo-Bartter's syndrome: a spectrum of disorders associated with cystic fibrosis. J R Soc Med. 82 (Suppl 16): 38. PMID: 2724265 Sezer RG, Aydemir G, Akcan AB, Paketci C, Karaoglu A, Aydinoz S et al. Nanoduct sweat conductivity measurements in 2664 patients: relationship to age, arterial blood gas, serum electrolyte profiles and clinical diagnosis. J Clin Med Res. 2013; 5: 34-41. http://dx.doi.org/10.4021/jocmr1191w Kose M, Pekcan S, Ozcelik U. An Epidemic of pseudo-Bartter syndrome in cystic fibrosis patients. Eur J Pediatr.2008; 167:115–6. https://doi.org/10.1007/s00431-007-0413-3 Mattar AC, Leone C, Rodrigues JC, Adde FV. Sweat conductivity: an accurate diagnostic test for cystic fibrosis? J Cyst Fibros.2014; 13: 528-33. https://doi.org/10.1016/j.jcf.2014.01.002