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

Yıl 2024, Cilt: 34 Sayı: 4, 500 - 505, 31.08.2024
https://doi.org/10.54005/geneltip.1459796

Öz

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.

Etik Beyan

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

Kaynakça

  • 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

Kistik Fibrozis Taraması Pozitif Yenidoğanlarda Elektrolit Bozukluğunun Ter Testine Etkisinin Araştırılması

Yıl 2024, Cilt: 34 Sayı: 4, 500 - 505, 31.08.2024
https://doi.org/10.54005/geneltip.1459796

Öz

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.

Kaynakça

  • 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
Toplam 24 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Klinik Tıp Bilimleri (Diğer)
Bölüm Original Article
Yazarlar

Esra Erdinc 0000-0002-9522-7333

Nazan Karaoğlu 0000-0002-3057-2988

Sevgi Pekcan 0000-0002-8059-902X

Elif Nur Yıldırım Öztürk 0000-0003-1447-9756

Erken Görünüm Tarihi 30 Ağustos 2024
Yayımlanma Tarihi 31 Ağustos 2024
Gönderilme Tarihi 27 Mart 2024
Kabul Tarihi 5 Ağustos 2024
Yayımlandığı Sayı Yıl 2024 Cilt: 34 Sayı: 4

Kaynak Göster

Vancouver Erdinc E, Karaoğlu N, Pekcan S, Yıldırım Öztürk EN. The Investigation of the Effect of Electrolyte Disorder on Sweat Test in Newborns with Positive Cystic Fibrosis Screening. Genel Tıp Derg. 2024;34(4):500-5.