Yıl: 2020 Cilt: 10 Sayı: 3 Sayfa Aralığı: 220 - 226 Metin Dili: Türkçe DOI: 10.4274/jarem.galenos.2020.3300 İndeks Tarihi: 02-06-2021

Konjenital Üriner Sistem Anomalileri: Prenatal Tanı/ Postnatal Sonuç

Öz:
Amaç: Fetal üriner sistem anomalilerinin anöploidi ve ek yapısal malformasyonlarla ilişkisini ortaya koymak, prenatal dönemde konan ön tanıları postnatal dönem sonuçları ile karşılaştırmaktır.Yöntemler: 2016-2019 yılları arasında kliniğimizde fetal üriner sistem anomalisi tanısı alan 282 olgu çalışma kapsamında değerlendirildi. Gebeliklere ait yaş, gebelik haftası, gravida, parite, fetal cinsiyet, anomalinin tipi, ek anomali varlığı, prenatal tanı yöntemi, fetal karyotip sonucu, terminasyon durumu ve postnatal sonuçlar kayıt edildi.Bulgular: Fetal üriner sistem anomalileri arasında ilk sırada hidronefroz (HN) yer almaktaydı. Üriner sistem anomalilerine eşlik eden konjenital malformasyonlar incelendiğinde %26,4 ile santral sinir sistemi anomalileri en sık gruptu. Ek anomaliler ile en sık birliktelik gösteren üriner sistem anomalileri; bilateral renal agenezi (%50), bilateral multikistik displastik böbrek (%50) ve ekstrofia vezikaydı (%50). Karyotip sonuçlarına bakıldığında olguların %26’sında trizomi, %4’ünde PKHD1 ve %2’sinde triploidi izlendi. Karyotip sonucuna göre normal karyotipli grup ve trizomili grup karşılaştırıldığında, ek anomalilerin varlığı (p=0,004), bilateral HN (p=0,012) ve terminasyon sonuçları (p=0,002) arasındaki fark istatistiksel olarak anlamlı bulundu. Konsey kararı ile %6,7 olguya terminasyon uygulandı. Postnatal dönemde pediatrik cerrahi kliniğinde/polikliniğinde takip edilebilen olguların oranı %34,6 olup, bu olguların %38,2’sine cerrahi girişim uygulandı.Sonuç: Geniş bir klinik spektruma sahip olan üriner sistem anomalilerinin multidisipliner bir yaklaşım ile gerek prenatal dönemde gerekse postnatal dönemde uygun tanı, takip ve tedavisi büyük önem taşımaktadır.
Anahtar Kelime:

Congenital Urinary System Anomalies: Prenatal Diagnosis/Postnatal Outcome

Öz:
Objective: To evaluate the relationship of fetal urinary system anomalies with aneuploidy and additional structural malformations, to compare thepreliminary diagnoses made in the prenatal period with the results of the postnatal period. Methods: Two hundred eighty-two cases diagnosed as fetal urinary system anomaly in our clinic between 2016-2019 were evaluated within the scopeof the study. Age, gestational week, gravida, parity, fetal gender, type of anomaly, presence of additional anomaly, prenatal diagnosis method, fetalkaryotype result, termination status and postnatal results were recorded. Results: Hydronephrosis (HN) was in the first place among fetal urinary system anomalies. When congenital malformations accompanying urinarysystem anomalies were examined, central nervous system anomalies were the most common group with 26.4%. Urinary system anomalies, which are most frequently associated with additional anomalies; bilateral renal agenesis (50%), bilateral multicystic dysplastic kidney (50%) and extrofia vesica(50%). Considering the karyotype results, trisomy was observed in 26% of the cases, PKHD1 in 4% and triploidy in 2%. According to the karyotyperesult, when the group with normal karyotype and trisomy group was compared, the difference between the presence of additional anomalies(p=0.004), bilateral HN (p=0.012) and termination results (p=0.002) was found statistically significant. The rate of cases followed in pediatric surgeryclinic/outpatient clinic in the postnatal period is 26% and 38.2% of these cases have undergone surgical intervention. Conclusion: Appropriate diagnosis, follow-up and treatment of urinary system anomalies that have a broad clinical spectrum, with a multidisciplinaryapproach, are of great importance in both the prenatal period and the postnatal period.
Anahtar Kelime:

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık
  • 1. Policiano C, Djokovic D, Carvalho R, Monteiro C, Melo MA, Graça LM. Ultrasound antenatal detection of urinary tract anomalies in the last decade: outcome and prognosis. J Matern Fetal Neonatal Med 2015; 28: 959-63.
  • 2. Queisser-Luft A, Stolz G, Wiesel A, Schlaefer K, Spranger J. Malformations in newborn: results based on 30,940 infants and fetuses from the Mainz congenital birth defect monitoring system (1990-1998). Arch Gynecol Obstet 2002; 266: 163-7.
  • 3. Andrés-Jensen L, Jørgensen FS, Thorup J, Flachs J, Madsen JL, Maroun LL, et al. The outcome of antenatal ultrasound diagnosed anomalies of the kidney and urinary tract in a large Danish birth cohort. Arch Dis Child 2016; 101: 819-24.
  • 4. Glassberg KI. Normal and abnormal development of the kidney: a clinician’s interpretation of current knowledge. J Urol 2002; 167: 2339-51.
  • 5. Boualia SK, Gaitan Y, Tremblay M, Sharma R, Cardin J, Kania A, et al. A core transcriptional network composed of Pax2/8, Gata3 and Lim1 regulates key players of pro/mesonephros morphogenesis. Dev Biol 2013; 382: 555-66.
  • 6. Sanna-Cherchi S, Sampogna RV, Papeta N, Burgess KE, Nees SN, Perry BJ, et al. Mutations in DSTYK and dominant urinary tract malformations. N Engl J Med 2013; 369: 621-9.
  • 7. Saisawat P, Kohl S, Hilger AC, Hwang DY, Yung Gee H, Dworschak GC, et al. Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association. Kidney Int 2014; 85: 1310-7.
  • 8. Vivante A, Hwang DY, Kohl S, Chen J, Shril S, Schulz J, et al. Exome sequencing discerns syndromes in patients from consanguineous families with congenital anomalies of the kidneys and urinary tract. J Am Soc Nephrol 2017; 28: 69-75.
  • 9. Zanetta VC, Rosman BM, Bromley B, Shipp TD, Chow JS, Campbell JB, et al. Variations in management of mild prenatal hydronephrosis among maternal-fetal medicine obstetricians, and pediatric urologists and radiologists. J Urol 2012; 188: 1935-9.
  • 10. Ruano R, Sananes N, Wilson C, Au J, Koh CJ, Gargollo P, et al. Fetal lower urinary tract obstruction: proposal for standardized multidisciplinary prenatal management based on disease severity. Ultrasound Obstet Gynecol 2016; 48: 476-82.
  • 11. González R, Schimke CM. Ureteropelvic junction obstruction in infants and children. Pediatr Clin North Am 2001; 48: 1505-18.
  • 12. Nguyen HT, Herndon CD, Cooper C, Gatti J, Kirsch A, Kokorowski P, et al. The Society for Fetal Urology consensus statement on the evaluation and management of antenatal hydronephrosis. J Pediatr Urol 2010; 6: 212-31.
  • 13. Ahmad G, Green P. Outcome of fetal pyelectasis diagnosed antenatally. J Obstet Gynaecol 2005; 25: 119-22.
  • 14. Wiesel A, Queisser-Luft A, Clementi M, Bianca S, Stoll C. Prenatal detection of congenital renal malformations by fetal ultrasonographic examination: an analysis of 709,030 births in European countries. Eur J Med Genet 2005; 48: 131-44.
  • 15. Stoll C, Tenconi R, Clementi M. Detection of congenital anomalies by fetal ultrasonographic examination across Europe. Community Genet 2001; 4: 225-32.
  • 16. Schreuder MF. Unilateral anomalies of kidney development: why is left not right? Kidney Int 2011; 80: 740-5.
  • 17. Kara A, Gurgoze MK, Aydin M, Koc ZP. Clinical features of children with multicystic dysplastic kidney. Pediatr Int 2018; 60: 750-4.
  • 18. Coco C, Jeanty P. Isolated fetal pyelectasis and chromosomal abnormalities. Am J Obstet Gynecol 2005; 193: 732-8.
  • 19. Corteville JE, Dicke JM, Crane JP. Fetal pyelectasis and Down syndrome: is genetic amniocentesis warranted? Obstet Gynecol 1992; 79: 770-2.
  • 20. Signorelli M, Cerri V, Taddei F, Groli C, Bianchi UA. Prenatal diagnosis and management of mild fetal pyelectasis: implications for neonatal outcome and follow-up. Eur J Obstet Gynecol Reprod Biol 2005; 118: 154-9.
  • 21. Nicolaides KH, Cheng HH, Abbas A, Snijders RJ, Gosden C. Fetal renal defects: associated malformations and chromosomal defects. Fetal Diagn Ther 1992; 7: 1-11.
  • 22. Hürcan E, Biler A, Ekin A, Tosun G, Taner EC. Fetal üriner sistem anomalilerinin prenatal tanısı. Perinatoloji Derg 2018; 26: 1-6.
  • 23. Batukan C, Holzgreve W, Danzer E, Rudin C, Ermiş H, Tercanlı S. Fetal üriner sistem anomalilerinin prenatal tans ve doğum öncesi yaklaşm: 173 olgunun analizi. J Turk Ger Gynecol Assoc 2002; 3: 23-32.
  • 24. Balsak D, Başoğul N, Toğrul C, Başoğul Ö, Seçkin KD, Karaaltı MO, et al. Üriner sistem anomalisi saptanan fetuslara yaklaşım. Jinekoloji - Obstetrik Neonatol Tıp Derg 2015; 12: 135-9.
  • 25. Morris RK, Middleton LJ, Malin GL, Quinlan-Jones E, Daniels J, Khan KS, et al. Outcome in fetal lower urinary tract obstruction: a prospective registry study. Ultrasound Obstet Gynecol 2015; 46: 424-31.
  • 26. Barbosa JA, Chow JS, Benson CB, Yorioka MA, Bull AS, Retik AB, et al. Postnatal longitudinal evaluation of children diagnosed with prenatal hydronephrosis: insights in natural history and referral pattern. Prenat Diagn 2012; 32: 1242-9.
  • 27. Scalabre A, Demède D, Gaillard S, Pracros JP, Mouriquand P, Mure PY. Prognostic value of ultrasound grading systems in prenatally diagnose unilateral urinary tract dilatation. J Urol 2017; 197: 1144-9.
APA özalp m, Yalçın Cömert H, DEMİR Ö, şal h, Aran T, Osmanağaoğlu M (2020). Konjenital Üriner Sistem Anomalileri: Prenatal Tanı/ Postnatal Sonuç. , 220 - 226. 10.4274/jarem.galenos.2020.3300
Chicago özalp miraç,Yalçın Cömert Hatice Sonay,DEMİR Ömer,şal hidayet,Aran Turhan,Osmanağaoğlu Mehmet Armağan Konjenital Üriner Sistem Anomalileri: Prenatal Tanı/ Postnatal Sonuç. (2020): 220 - 226. 10.4274/jarem.galenos.2020.3300
MLA özalp miraç,Yalçın Cömert Hatice Sonay,DEMİR Ömer,şal hidayet,Aran Turhan,Osmanağaoğlu Mehmet Armağan Konjenital Üriner Sistem Anomalileri: Prenatal Tanı/ Postnatal Sonuç. , 2020, ss.220 - 226. 10.4274/jarem.galenos.2020.3300
AMA özalp m,Yalçın Cömert H,DEMİR Ö,şal h,Aran T,Osmanağaoğlu M Konjenital Üriner Sistem Anomalileri: Prenatal Tanı/ Postnatal Sonuç. . 2020; 220 - 226. 10.4274/jarem.galenos.2020.3300
Vancouver özalp m,Yalçın Cömert H,DEMİR Ö,şal h,Aran T,Osmanağaoğlu M Konjenital Üriner Sistem Anomalileri: Prenatal Tanı/ Postnatal Sonuç. . 2020; 220 - 226. 10.4274/jarem.galenos.2020.3300
IEEE özalp m,Yalçın Cömert H,DEMİR Ö,şal h,Aran T,Osmanağaoğlu M "Konjenital Üriner Sistem Anomalileri: Prenatal Tanı/ Postnatal Sonuç." , ss.220 - 226, 2020. 10.4274/jarem.galenos.2020.3300
ISNAD özalp, miraç vd. "Konjenital Üriner Sistem Anomalileri: Prenatal Tanı/ Postnatal Sonuç". (2020), 220-226. https://doi.org/10.4274/jarem.galenos.2020.3300
APA özalp m, Yalçın Cömert H, DEMİR Ö, şal h, Aran T, Osmanağaoğlu M (2020). Konjenital Üriner Sistem Anomalileri: Prenatal Tanı/ Postnatal Sonuç. JAREM, 10(3), 220 - 226. 10.4274/jarem.galenos.2020.3300
Chicago özalp miraç,Yalçın Cömert Hatice Sonay,DEMİR Ömer,şal hidayet,Aran Turhan,Osmanağaoğlu Mehmet Armağan Konjenital Üriner Sistem Anomalileri: Prenatal Tanı/ Postnatal Sonuç. JAREM 10, no.3 (2020): 220 - 226. 10.4274/jarem.galenos.2020.3300
MLA özalp miraç,Yalçın Cömert Hatice Sonay,DEMİR Ömer,şal hidayet,Aran Turhan,Osmanağaoğlu Mehmet Armağan Konjenital Üriner Sistem Anomalileri: Prenatal Tanı/ Postnatal Sonuç. JAREM, vol.10, no.3, 2020, ss.220 - 226. 10.4274/jarem.galenos.2020.3300
AMA özalp m,Yalçın Cömert H,DEMİR Ö,şal h,Aran T,Osmanağaoğlu M Konjenital Üriner Sistem Anomalileri: Prenatal Tanı/ Postnatal Sonuç. JAREM. 2020; 10(3): 220 - 226. 10.4274/jarem.galenos.2020.3300
Vancouver özalp m,Yalçın Cömert H,DEMİR Ö,şal h,Aran T,Osmanağaoğlu M Konjenital Üriner Sistem Anomalileri: Prenatal Tanı/ Postnatal Sonuç. JAREM. 2020; 10(3): 220 - 226. 10.4274/jarem.galenos.2020.3300
IEEE özalp m,Yalçın Cömert H,DEMİR Ö,şal h,Aran T,Osmanağaoğlu M "Konjenital Üriner Sistem Anomalileri: Prenatal Tanı/ Postnatal Sonuç." JAREM, 10, ss.220 - 226, 2020. 10.4274/jarem.galenos.2020.3300
ISNAD özalp, miraç vd. "Konjenital Üriner Sistem Anomalileri: Prenatal Tanı/ Postnatal Sonuç". JAREM 10/3 (2020), 220-226. https://doi.org/10.4274/jarem.galenos.2020.3300