Research Article
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Perinatal Dönem Otopsilerinde Üriner Sistem Malformasyonları ve Eşlik Eden Ekstrarenal Anomaliler

Year 2020, Volume: 10 Issue: 1, 32 - 38, 01.04.2020

Abstract

Amaç: Çocuklarda gelişimsel ve genetik böbrek anomalileri perinatal/neonatal dönemdeki mortalite sebeplerinin başında gelmektedir. Bu anomalilere hastanın prognozunu etkileyen çok fazla ekstrarenal konjenital bozukluk da eşlik etmektedir. Bu çalışmanın amacı, perinatal dönem otopsilerinde konjenital üriner sistem malformasyonlarının sıklığını, antenatal dönemdeki ultrason bulgularıyla postmortem bulguların arasındaki korelasyonu, üriner sistem anomalisi olan olguların kromozom analiz sonuçlarını, gelişimsel ve genetik genitoüriner sistem patolojilerinin tipleri ve eşlik eden konjenital malformasyonları değerlendirmektir. Materyal ve Metot: Ocak 2000-Aralık 2012 tarihleri arasında Hacettepe Üniversitesi Tıp Fakültesi Pediatrik Patoloji Ünitesi’nde yapılan postmortem inceleme verileri retrospektif olarak değerlendirildi. Bulgular: 1412 perinatal dönem otopsisi arasından 113 (%8,0) üriner sistem patolojisi olan olgu saptandı. Bunlar da gelişimsel (89 olgu, %6,3) ve renal genetik (24 olgu, %1,7) anomaliler olarak gruplandı. Olguların en küçüğü 13 haftalık fetus, en büyüğü ise 20 günlük yenidoğan bebekti. Böbrek agenezisi en fazla bulunan gelişimsel renal anomaliydi. Genetik üriner sistem patolojileri grubunda en sık otozomal resesif polikistik böbrek hastalığı saptandı. Gelişimsel
ve herediter/genetik böbrek anomalisi olan olguların hemen hemen hepsinde (108/113= %95,5) en az bir veya daha fazla böbrek dışı patoloji olduğu saptandı. Genitoüriner sistem anomalileri %52,2 oranla en çok birliktelik gösteren patolojilerdi. Daha sonra %38,9 ile kas ve iskelet sistemi anomalileri, %34,5 ile solunum sistemi anomalileri, %27,6 ile merkezi sinir sistemi anomalileri, %26,5 ile gastrointestinal sistem anomalileri ve %11,5 ile dolaşım sistemi anomalileri yer almaktaydı. Olguların 58’inde (%51,3) antenatal ultrason bulgularının otopsi bulgularıyla uyumlu olduğu görüldü. Kromozom anormalisi dokuz olguda (%8) saptandı. Bunlar böbrek agenezisi, displastik böbrek ve atnalı böbrek ile ilişkiliydi. Sonuç: Çalışmamızda incelenen olguların %95,5’inde birliktelik gösteren konjenital malformasyonlar tespit edilmiştir. Prenatal dönemde üriner sistem anomalisi saptanarak termine edilen vakalarda ayrıntılı otopsi incelemesinin ve kromozomal değerlendirmenin
yapılması ailelere genetik danışma verilmesi için faydalı olacaktır

References

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  • 2. Risdon RA, Woolf AS. Development of the kidney. In: Heptinstall’s Pathology of the Kidney, vol 1. Jennette JC, Olsen JL, Schwartz MM, and Silver FG, eds. Philadelphia: LippincottRaven Publishers, 1998:67–84.
  • 3. Risdon RA. The urinary system. In: Fetal and Neonatal Pathology(3rd ed.). Keeling J. (eds). London: Springer Verlag 2001:525–551.
  • 4. Risdon RA. Development defects and cystic diseases of the kidney. In: Heptinstall’s Pathology of the Kidney, vol 2. Jennette JC, Olsen JL, Schwartz MM, and Silver FG, eds. Philadelphia: Lippincott- Raven Publishers, 1998:1149–1206.
  • 5. Gilbert-Barness E, Lacson A, Bernstein J, Risdon RA. Renal system. In: Potters Pathology of the Fetus, Infant and Child(2nd ed.), vol 2. Gilbert Barness E. (eds). Mosby Elsevier Inc 2007:1281–1344.
  • 6. Dighe M, Moshiri M, Phillips G, Biyyam D, Dubinsky T. Fetal genitourinary anomalies: a pictorial rewiev with postnatal correlation. Ultrasound Q 2011;27:7–21.
  • 7. Bernstein J. Gilbert-Barnes E. Congenital malformations of the kidney. In: Renal Pathology: With Clinical and Functional Correlations(2nd ed.) vol 2. Tisher CC, Brenner BM (eds). Philadelphia: J. B. Lippincott Company 1994:1355–1386.
  • 8. Gilbert-Barness E. Renal genetic disorders in malformation syndromes. In: Potters Pathology of the Fetus, Infant and Child(2nd ed.), vol 2. Gilbert Barness E. (eds). Mosby Elsevier Inc 2007:1355–1373.
  • 9. Vogt BA, Dell KMC. The kidney and urinary tract. In: Martin RJ, Fanaroff AA, Walsh MC (eds). Neonatal-Perinatal Medicine Diseases of the Fetus and İnfant (9th ed). ST. Louis: Mosby, 2011:1681–1703.
  • 10. Kerecuk L, Schreuder MF, Woolf AS. Renal tract Malformations: perspectives for nephrologists. Nat Clin Pract Nephrol 2008;4:312–325.
  • 11. McPherson E. Renal anomalies in families of individuals with congenital solitary kidney. Genet Med 2007;9:298–302.
  • 12. Bronshtein M, Bar-Hava I, Lightman A. The significance of early second-trimester sonographic detection minor fetal renal anomalies. Prenat Diagn 1995;15:627–632.
  • 13. Hill GS. Cystic and Dysplastic diseases of kidney: developmental lesions. In Uropathology, vol 1. Hill GS (eds). Edinburgh, New York: Churchill Livingstone 1989:81–133.
  • 14. Glassberg KI, Stephens FD, Lebowitz RE, Braren V, Duckett JW, Jacobs EC, et al. Renal dysgenesis and cystic disease of the kidney: a report of the committee on terminology, nomenclature and classification, section on urology, American Academy of Pediatrics. J Urol 1987;138:1085–1092.
  • 15. Kumar P. Renal Malformations: Renal Agenesis, Horseshoe Kidney, Renal Cystic Diseases and Posterior Ürethral Valve. In Congenital Malformations: Evidence-Based Evaluation and Management(1st edt). Kumar P, Burton BK (eds). McGrawHills Companies, Inc. 2008:251–282
  • 16. Singh ZN, Dinda KA. Renal dysplasia: an autopsy study of associated congenital malformations. Ind J Paed 1998;65:311–318.
  • 17. Kakkar N, Menon S, Radotra B. D. Spectrum of pediatric developmental and genetic lesions and associated congenital malformstions- an autopsy study from North India. Fetal and Pediatric Pathology 2006;25:35–49.
  • 18. Hakverdi S, Güzelmansur İ, Güngören A, Toprak S, Yıldız M, Hakverdi AU, et al. Evaluation of fetal autopsy findings in the Hatay region:274 cases. Turk Patoloji Derg 2012;28:154–161.
  • 19. Chevalier RL, Peters CA. Obstructive uropathy. In: Avner ED, HArmon WE, Niaudet P, Yoshikawa N (eds). Pediatric Nephrology(6th edt). Berlin: Springer Verlag, 2009:1337–1377.
  • 20. Churg J, Bernstein J, Risdon RA. Renal disease: classification and atlas-II- Developmental and hereditary diseases. Tokyo: Igoku-Shoin; 1987:135.
  • 21. Bisceglia M, Galliani CA, Senger C, Stallone C, Sessa A. Renal cystic diseases, a review. Adv Anat Pathol 2006;13:26–56.
  • 22. Lomax L, Johansson H, Valentin L, Sladkevicius P. Aggrement between prenatal ultrasonography and fetal autopsy findings: a retrospective study of second trimester terminations of pregnancy. Ultraschall in Med 2012;33:31–37.
  • 23. Giordano G, Fellegara G, Brigati F, Gramellini D, Magnani C. Value of autopsy in renal malformations: comparison of clinical diagnosis and post-mortem examination. Acta Biomed 2011;82:230–243.
  • 24. Brumfield CG, Davis RO, Joseph DB, Cosper P. Fetal obstructive uropathies. İmportance of chromosomal abnormalities and associated anomalies to perinatal outcome. J Reprod Med 1991;36:662–666.
  • 25. Oliveira EA, Cabral AC, Pereira AK, Machado IN, Diniz JSS, Lana AMA. Outcome of fetal urinary tract anomalies associated with multiple malformations and chromosomal abnormalities. Prenat Diagn 2001;21:129–134.
  • 26. Froster UG, Horn LC, Holland H, Strenge S, Faber R. Prenatal diagnosis of del(15)(q26.1)and del(18)(q21.3)due to unbalanced de novo translocation: ultrasound, molecular cytogenetic and autopsy findings. Prenat Diagn 2000;20:992–995.
  • 27. Lee CN, Cheng WF, Lai HL, Cheng SP, Shih JC, Shyu MK, et al. Perinetal management and outcome of fetuses with single umbilical artery diagnosed prenatally. J Matern Fetal Investig 1998;8:156–159.
Year 2020, Volume: 10 Issue: 1, 32 - 38, 01.04.2020

Abstract

References

  • 1. Clapp WL, Abrahamson DR. Development and gross anatomy of the kidney. In: Renal Pathology: With Clinical and Functional Correlations(2nd ed.) vol 1. Tısher CC, Brenner BM (eds). Philadelphia: J. B. Lippincott Company 1994:3–59.
  • 2. Risdon RA, Woolf AS. Development of the kidney. In: Heptinstall’s Pathology of the Kidney, vol 1. Jennette JC, Olsen JL, Schwartz MM, and Silver FG, eds. Philadelphia: LippincottRaven Publishers, 1998:67–84.
  • 3. Risdon RA. The urinary system. In: Fetal and Neonatal Pathology(3rd ed.). Keeling J. (eds). London: Springer Verlag 2001:525–551.
  • 4. Risdon RA. Development defects and cystic diseases of the kidney. In: Heptinstall’s Pathology of the Kidney, vol 2. Jennette JC, Olsen JL, Schwartz MM, and Silver FG, eds. Philadelphia: Lippincott- Raven Publishers, 1998:1149–1206.
  • 5. Gilbert-Barness E, Lacson A, Bernstein J, Risdon RA. Renal system. In: Potters Pathology of the Fetus, Infant and Child(2nd ed.), vol 2. Gilbert Barness E. (eds). Mosby Elsevier Inc 2007:1281–1344.
  • 6. Dighe M, Moshiri M, Phillips G, Biyyam D, Dubinsky T. Fetal genitourinary anomalies: a pictorial rewiev with postnatal correlation. Ultrasound Q 2011;27:7–21.
  • 7. Bernstein J. Gilbert-Barnes E. Congenital malformations of the kidney. In: Renal Pathology: With Clinical and Functional Correlations(2nd ed.) vol 2. Tisher CC, Brenner BM (eds). Philadelphia: J. B. Lippincott Company 1994:1355–1386.
  • 8. Gilbert-Barness E. Renal genetic disorders in malformation syndromes. In: Potters Pathology of the Fetus, Infant and Child(2nd ed.), vol 2. Gilbert Barness E. (eds). Mosby Elsevier Inc 2007:1355–1373.
  • 9. Vogt BA, Dell KMC. The kidney and urinary tract. In: Martin RJ, Fanaroff AA, Walsh MC (eds). Neonatal-Perinatal Medicine Diseases of the Fetus and İnfant (9th ed). ST. Louis: Mosby, 2011:1681–1703.
  • 10. Kerecuk L, Schreuder MF, Woolf AS. Renal tract Malformations: perspectives for nephrologists. Nat Clin Pract Nephrol 2008;4:312–325.
  • 11. McPherson E. Renal anomalies in families of individuals with congenital solitary kidney. Genet Med 2007;9:298–302.
  • 12. Bronshtein M, Bar-Hava I, Lightman A. The significance of early second-trimester sonographic detection minor fetal renal anomalies. Prenat Diagn 1995;15:627–632.
  • 13. Hill GS. Cystic and Dysplastic diseases of kidney: developmental lesions. In Uropathology, vol 1. Hill GS (eds). Edinburgh, New York: Churchill Livingstone 1989:81–133.
  • 14. Glassberg KI, Stephens FD, Lebowitz RE, Braren V, Duckett JW, Jacobs EC, et al. Renal dysgenesis and cystic disease of the kidney: a report of the committee on terminology, nomenclature and classification, section on urology, American Academy of Pediatrics. J Urol 1987;138:1085–1092.
  • 15. Kumar P. Renal Malformations: Renal Agenesis, Horseshoe Kidney, Renal Cystic Diseases and Posterior Ürethral Valve. In Congenital Malformations: Evidence-Based Evaluation and Management(1st edt). Kumar P, Burton BK (eds). McGrawHills Companies, Inc. 2008:251–282
  • 16. Singh ZN, Dinda KA. Renal dysplasia: an autopsy study of associated congenital malformations. Ind J Paed 1998;65:311–318.
  • 17. Kakkar N, Menon S, Radotra B. D. Spectrum of pediatric developmental and genetic lesions and associated congenital malformstions- an autopsy study from North India. Fetal and Pediatric Pathology 2006;25:35–49.
  • 18. Hakverdi S, Güzelmansur İ, Güngören A, Toprak S, Yıldız M, Hakverdi AU, et al. Evaluation of fetal autopsy findings in the Hatay region:274 cases. Turk Patoloji Derg 2012;28:154–161.
  • 19. Chevalier RL, Peters CA. Obstructive uropathy. In: Avner ED, HArmon WE, Niaudet P, Yoshikawa N (eds). Pediatric Nephrology(6th edt). Berlin: Springer Verlag, 2009:1337–1377.
  • 20. Churg J, Bernstein J, Risdon RA. Renal disease: classification and atlas-II- Developmental and hereditary diseases. Tokyo: Igoku-Shoin; 1987:135.
  • 21. Bisceglia M, Galliani CA, Senger C, Stallone C, Sessa A. Renal cystic diseases, a review. Adv Anat Pathol 2006;13:26–56.
  • 22. Lomax L, Johansson H, Valentin L, Sladkevicius P. Aggrement between prenatal ultrasonography and fetal autopsy findings: a retrospective study of second trimester terminations of pregnancy. Ultraschall in Med 2012;33:31–37.
  • 23. Giordano G, Fellegara G, Brigati F, Gramellini D, Magnani C. Value of autopsy in renal malformations: comparison of clinical diagnosis and post-mortem examination. Acta Biomed 2011;82:230–243.
  • 24. Brumfield CG, Davis RO, Joseph DB, Cosper P. Fetal obstructive uropathies. İmportance of chromosomal abnormalities and associated anomalies to perinatal outcome. J Reprod Med 1991;36:662–666.
  • 25. Oliveira EA, Cabral AC, Pereira AK, Machado IN, Diniz JSS, Lana AMA. Outcome of fetal urinary tract anomalies associated with multiple malformations and chromosomal abnormalities. Prenat Diagn 2001;21:129–134.
  • 26. Froster UG, Horn LC, Holland H, Strenge S, Faber R. Prenatal diagnosis of del(15)(q26.1)and del(18)(q21.3)due to unbalanced de novo translocation: ultrasound, molecular cytogenetic and autopsy findings. Prenat Diagn 2000;20:992–995.
  • 27. Lee CN, Cheng WF, Lai HL, Cheng SP, Shih JC, Shyu MK, et al. Perinetal management and outcome of fetuses with single umbilical artery diagnosed prenatally. J Matern Fetal Investig 1998;8:156–159.
There are 27 citations in total.

Details

Primary Language Turkish
Subjects Clinical Sciences
Journal Section Research Article
Authors

Ömer Ertekin This is me

Zuhal Akçören This is me

Publication Date April 1, 2020
Published in Issue Year 2020 Volume: 10 Issue: 1

Cite

APA Ertekin, Ö., & Akçören, Z. (2020). Perinatal Dönem Otopsilerinde Üriner Sistem Malformasyonları ve Eşlik Eden Ekstrarenal Anomaliler. Kafkas Journal of Medical Sciences, 10(1), 32-38.
AMA Ertekin Ö, Akçören Z. Perinatal Dönem Otopsilerinde Üriner Sistem Malformasyonları ve Eşlik Eden Ekstrarenal Anomaliler. KAFKAS TIP BİL DERG. April 2020;10(1):32-38.
Chicago Ertekin, Ömer, and Zuhal Akçören. “Perinatal Dönem Otopsilerinde Üriner Sistem Malformasyonları Ve Eşlik Eden Ekstrarenal Anomaliler”. Kafkas Journal of Medical Sciences 10, no. 1 (April 2020): 32-38.
EndNote Ertekin Ö, Akçören Z (April 1, 2020) Perinatal Dönem Otopsilerinde Üriner Sistem Malformasyonları ve Eşlik Eden Ekstrarenal Anomaliler. Kafkas Journal of Medical Sciences 10 1 32–38.
IEEE Ö. Ertekin and Z. Akçören, “Perinatal Dönem Otopsilerinde Üriner Sistem Malformasyonları ve Eşlik Eden Ekstrarenal Anomaliler”, KAFKAS TIP BİL DERG, vol. 10, no. 1, pp. 32–38, 2020.
ISNAD Ertekin, Ömer - Akçören, Zuhal. “Perinatal Dönem Otopsilerinde Üriner Sistem Malformasyonları Ve Eşlik Eden Ekstrarenal Anomaliler”. Kafkas Journal of Medical Sciences 10/1 (April 2020), 32-38.
JAMA Ertekin Ö, Akçören Z. Perinatal Dönem Otopsilerinde Üriner Sistem Malformasyonları ve Eşlik Eden Ekstrarenal Anomaliler. KAFKAS TIP BİL DERG. 2020;10:32–38.
MLA Ertekin, Ömer and Zuhal Akçören. “Perinatal Dönem Otopsilerinde Üriner Sistem Malformasyonları Ve Eşlik Eden Ekstrarenal Anomaliler”. Kafkas Journal of Medical Sciences, vol. 10, no. 1, 2020, pp. 32-38.
Vancouver Ertekin Ö, Akçören Z. Perinatal Dönem Otopsilerinde Üriner Sistem Malformasyonları ve Eşlik Eden Ekstrarenal Anomaliler. KAFKAS TIP BİL DERG. 2020;10(1):32-8.