Bayram Ali Dorum, Salih Çağrı Çakır, Uğur Yakut, Hilal Özkan, Arif Nuri Gürpınar, Nilgün Köksal

Konjenital Diyafragma Hernisi: On Yıllık Tek Merkez Sonuçları

GİRİŞ ve AMAÇ: Konjenital diyafragma hernisi (KDH) yüksek mortalite ve uzun dönem morbiditeler ile ilişkili nadir bir anomalidir. Bu çalışmanın amacı ünitemizde KDH tanısı ile takip edilen hastaların demografik, klinik özelliklerini, uygulanan tedavi ve sonuçlarını tanımlamaktır. YÖNTEM ve GEREÇLER: : Bu çalışmada Uludağ Üniversitesi Tıp Fakültesi yenidoğan yoğun bakım ünitesinde KDH tanısı ile tedavi gören hastalar retrospektif olarak taranmıştır. Ocak 2007 ile Aralık 2016 arasında ünitemizde tedavi gören hastaların medikal kayıtları incelenmiştir. Hastaların demografik ve doğum özellikleri, pulmoner hipertansiyon durumları, karaciğer ve mide herniasyonları, ek konjenital anomalileri, mekanik ventilasyon şekilleri değerlendirilmiştir. BULGULAR: : Çalışma periyodu boyunca KDH nedeniyle tedavi gören 40 hasta çalışmaya alınmıştır. Tüm hastalar içinde ölüm oranı %67.5 (27/40) olarak gerçekleşmiştir. Düşük doğum ağırlığı, düşük gestasyonel hafta, düşük APGAR skorları ve başlangıçta yüksek oksijen ihtiyacı mortalite ile ilişkili bulunmuştur. Opere edilen hastalar içinde yaşama oranı %61 (13/21) idi. Yaşayan hastaların ortalama hastanede kalış süreleri 23 (14–35) idi. Taburculuk sonrası komorbid durumlar kronik gastrointestinal, pulmoner sorunlar ve büyüme geriliği olarak saptandı. TARTIŞMA ve SONUÇ: KDH halen yüksek mortalite ve morbiditeye sahiptir. Prenatal tanı alan hastaların uygun merkezlerde doğması başarılı müdahale şanslarını artıracaktır. Congenital Diaphragmatic Hernia: Ten-Year Single Center Results INTRODUCTION: Congenital diaphragmatic hernia (CDH) is a rare abnormality with high mortality and long-term comorbid conditions. Our aim, in this paper, was to describe demographics and birth characteristics, treatment, and outcomes of consecutive patients with CDH treated at our institution. METHODS: The present study represents a retrospective cohort study of neonates with CDH who were treated at Uludag University Medical Faculty, Neonatal intensive care unit, Bursa. We identified the medical records of all patients with CDH who were admitted for treatment to our neonatal intensive care unit from January 2007 to December 2016. We reviewed the medical, surgical records, demographics and birth characteristics. We also recorded presence of pulmonary hypertension, whether or not the liver and, stomach also herniated into the thorax, other associated congenital malformations, and type of mechanical ventilation. RESULTS: Forty patients were included in this study. The overall mortality was 67.5% (27/40). Survival for those who had surgical correction of CDH was 61% (13/21). Low birth weight, low gestational age, low APGAR scores and, high oxygen need at baseline was found to be associated with mortality, in patients with CDH. Among survivors, the median duration of hospitalization was 23 (14–35) days. Chronic gastrointestinal, pulmonary disorders and, failure to thrive were the most comorbid conditions after discharge. DISCUSSION AND CONCLUSION: KDH still has high mortality and morbidity. The birth of patients with prenatal diagnosis at appropriate centers will increase their chances of successful intervention.

Anahtar Kelimeler:

Konjenital diyafragma hernisi, pulmoner hipertansiyon, pulmoner hipoplazi, yenidoğan

PDF

___

1. The Congenital Diaphragmatic Hernia Study Group. Congenital diaphragmatic hernia: Defect size correlates with developmental defect. J Pediatr Surg 2013;48:1177–82.
2. Testini M, Girardi A, Isernia RM, De Palma A, Catalano G, Pezzolla A, et al. Emergency surgery due to diaphragmatic hernia: case series and review. World J Emerg Surg 2017;12:23.
3. Shieh HF, Barnewolt CE, Wilson JM, Zurakowski D, Connolly SA, Estroff JA, et al. Percent predicted lung volume changes on fetal magnetic resonance imaging throughout gestation in congenital diaphragmatic hernia. J Pediatr Surg 2017; 52:933-7.
4. Van Ginderdeuren E, Allegaert K, Decaluwe H, Deprest J, Debeer A, Proesmans M. Clinical Outcome for Congenital Diaphragmatic Hernia at the Age of 1 Year in the Era of Fetal Intervention. Neonatology. 2017;112:365–71.
5. Grizelj R, Bojanic K, Vukovic J, Weingarten TN, Schroeder DR, Sprung J. Congenital Diaphragmatic Hernia: The Side of Diaphragmatic Defect and Associated Nondiaphragmatic Malformations. Am J Perinatol 2017;5 34:895-904.
6. Yang W, Carmichael SL, Harris JA, Shaw GM. Epidemiologic Characteristics Of Congenital Diaphragmatic Hernia Among 2.5 Million California Births, 1989-1997. Birth Defects Res A Clin Mol Teratol 2006;76:170–4.
7. Kailin J, Dhillon G, Maskatia S, Cass D, Shamshirsaz A, Mehollin-Ray A, et al. Fetal left-sided cardiac structural dimensions in left-sided congenital diaphragmatic hernia - association with severity and impact on postnatal outcomes. Prenat Diagn 2017; 37(5):502-9.
8. Snoek KG, Peters NCJ, van Rosmalen J, van Heijst AFJ, Eggink AJ, Sikkel E, et al. The validity of the observed-to-expected lung-to-head ratio in congenital diaphragmatic hernia in an era of standardized neonatal treatment; a multicenter study. Prenat Diagn 2017;37:658-65. 9. Celayir S, İlçe Z, Kiliç N, Sarimurat N, Erdoğan E, Yeker D. Konjenital Diyafragma Hernisi ( 1978 1998 ). 1999;30:159–264.
10. Tovar JA. Congenital diaphragmatic hernia. Orphanet J Rare Dis. 2012;7:1–15.
11. Chandrasekharan PK, Rawat M, Madappa R, Rothstein DH, Lakshminrusimha S. Congenital Diaphragmatic hernia – a review. Matern Heal Neonatol Perinatol 2017; 3:1-16.
12. Kantarci S, Ackerman KG, Russell MN, Longoni M, Sougnez C, Noonan KM, et al. Characterization of the Chromosome 1q41q42.12 region, and the Candidate Gene DISP1, in Patients with CDH. Am J Med Genet A 2010;10:2493–504.
13. Klaassens M, Scott DA, van Dooren M, Hochstenbach R, Eussen HJ, Cai WW, et al. Congenital diaphragmatic hernia associated with duplication of 11q23-qter. Am J Med Genet Part A 2006;140:1580–6.
14. Wat MJ, Shchelochkov OA, Holder AM, Breman AM, Dagli A, Bacino C, et al. Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia. Am J Med Genet A 2009;149:1661–77.
15. Longoni M, High FA, Qi H, Joy MP, Hila R, Coletti CM, et al. Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia. Hum Genet. 2017; 136:679-91.
16. Beurskens LWJE, Tibboel D, Lindemans J, Duvekot JJ, Cohen-Overbeek TE, Veenma DCM, et al. Retinol Status of Newborn Infants Is Associated With Congenital Diaphragmatic Hernia. Pediatrics 2010;126:712–20.
17. Gence A. Konjenital Diyafragma Hernisinde Prenatal Tani Parametreleri İle Sağkalim Üzerine Öngörüde Bulunulabilir Mi? (Uzmanlık Tezi). İstanbul; 2009.
18. Bojanic K, Woodbury JM, Cavalcante AN, Grizelj R, Asay GF, Colby CE, et al. Congenital diaphragmatic hernia: outcomes of neonates treated at Mayo Clinic with and without extracorporeal membrane oxygenation. Pediatr Anesth 2017;27:314–21.
19. Bedoyan JK, Blackwell SC, Treadwell MC, Johnson A, Klein MD. Congenital diaphragmatic hernia: associated anomalies and antenatal diagnosis. Outcome-related variables at two Detroit hospitals. Pediatr Surg Int 2004;20:170–6.
20. Dogruyol H. Çocukluk Çağindaki Diyafram Patolojileri. Toraks Cerrahisi Bul 2013;4:230–45.
21. Stevens TP, van Wijngaarden E, Ackerman KG, Lally P a, Lally KP. Timing of delivery and survival rates for infants with prenatal diagnoses of congenital diaphragmatic hernia. Pediatrics 2009;123:494–502.
22. Hutcheon JA, Butler B, Lisonkova S, Marquette GP, Mayer C, Skoll A, et al. Timing of delivery for pregnancies with congenital diaphragmatic hernia. BJOG An Int J Obstet Gynaecol 2010;117:1658–62.
23. Baerg J, Kanthimathinathan V, Gollin G. Late-presenting congenital diaphragmatic hernia: diagnostic pitfalls and outcome. Hernia 2012;16:461–6.
24. Cordier AG, Jani JC, Cannie MM, Rodó C, Fabietti I, Persico N, et al. Stomach position in prediction of survival in left-sided congenital diaphragmatic hernia with or without fetoscopic endoluminal tracheal occlusion. Ultrasound Obstet Gynecol 2015;46:155–61.
25. Victoria T, Danzer E, Oliver ER, Edgar JC, Iyoob S, Partridge EA, et al. Right Congenital Diaphragmatic Hernias: Is There a Correlation between Prenatal Lung Volume and Postnatal Survival, as in Isolated Left Diaphragmatic Hernias? Fetal Diagn Ther 2017;X:X.
26. Werneck Britto IS, Olutoye OO, Cass DL, Zamora IJ, Lee TC, Cassady CI, et al. Quantification of liver herniation in fetuses with isolated congenital diaphragmatic hernia using two-dimensional ultrasonography. Ultrasound Obstet Gynecol 2015;46:150–4.
27. Snoek KG, Capolupo I, van Rosmalen J, Hout L de J den, Vijfhuize S, Greenough A, et al. Conventional Mechanical Ventilation Versus High-frequency Oscillatory Ventilation for Congenital Diaphragmatic Hernia. Ann Surg 2016;263:867–74.
28. Colvin J, Bower C, Dickinson JE, Sokol J. Outcomes of Congenital Diaphragmatic Hernia: A Population-Based Study in Western Australia. Pediatrics 2005;116:e356–63.
29. Leeuwen L, Mous DS, van Rosmalen J, Olieman JF, Andriessen L, Gischler SJ, et al. Congenital Diaphragmatic Hernia and Growth to 12 Years. Pediatrics 2017;140:e20163659.