Congenital Kidney and Urinary Tract Anomalies In Children(CAKUT); Single Center Experience

Öz

Aim: Congenital anomalies of the kidney and urinary tract (CAKUT) in children include structural and functional malformations. These anomalies are the most common malformations in the prenatal period and constitute the leading cause of end-stage renal disease in children worldwide. In this study, the clinical, demographic, and treatment characteristics of the children with CAKUT were evaluated. 

Material and Methods: We retrospectively reviewed the medical records of the children with CAKUT who were admitted to our outpatient clinic during the two years period at Erzurum Regional Education and Research Hospital. Age, gender, family history, imaging studies and treatments were recorded. 

Results: The study included 378 patients. 179(47.4%)  children were female, 199(52.6%) children were males. The mean age was 38 months(min 1 month-max 212 months). In our study, ureteropelvic junction obstruction was detected in 132(35%) patients, primary vesicoureteral reflux was detected in 128(33.9%) patients, renal agenesis was detected in 34(9%) patients, and ectopic kidney was detected in 19(5.1%) patients, double collecting system was detected in 19(5.1%) patients, horseshoe kidney was detected in 16(4.2%) patients, renal hypoplasia was detected in 15(3.8%) patients, polycystic kidney disease was detected in 14(3.8%) patients, multicystic dysplastic kidney was detected in 13(3.4%) patients, uretero-vesical junction obstruction was detected in 11(2.9%) patients, ureterocele was detected in 10(2.7%) patients, posterior urethral valve was detected in 9(2.4%) patients and urethral hypoplasia was detected in one (0.3%) patient. Eighty-seven (22.9%) patients had renal scar and 13(3.4%) patients had chronic kidney disease. Forty-three patients had multiple CAKUT forms. Twenty-nine(7.7%) of the patients had a history of CAKUT in the family.. 

Conclusion: CAKUT may cause serious morbidity throughout life. Careful and regular monitoring of children from the antenatal period is important. Although early diagnosis reduces the risk of permanent renal damage in cases requiring treatment, it still plays an important role in CKD in our country. 

Çocuklarda Konjenital Böbrek ve Üriner Kanal Anomalisi(CAKUT); Tek Merkez Deneyimi

Öz

Amaç: Çocuklarda konjenital böbrek ve üriner kanal anomalisi (CAKUT), yapısal ve fonksiyonel malformasyonları içerir. Bu anomaliler doğum öncesi dönemde en sık görülen malformasyonlardır ve dünya çapında çocuklarda son dönem böbrek hastalığının önde gelen nedenini oluşturmaktadır. Bu çalışmada CAKUT tanısı ile takip edilen vakaların kli¬nik, demografik ve verilen tedavi özellikleri değerlendirildi. 

Gereç ve Yöntemler: Erzurum Bölge Eğitim ve Araştırma Hastanesine Mart 2017 ve Şubat 2019 arasındaki iki yıllık süre içinde kliniğimize başvuran ve CAKUT tanı¬sı alan vakaların dosyaları geriye dönük olarak incelendi. Dosya bilgilerinden yaş, cinsiyet, aile öyküsü, görüntüleme çalışmaları ve almış oldukları tedavileri kaydedildi. 

Bulgular: Çalışmamıza 378 olgu alındı, 179 kız(%47.4), 199 erkekti (%52.6), ortalama yaş 38 ay(en küçük 1 ay- en büyük 212 ay). Çalışmamızda olguların 132’sinde(%35) üreteropelvik darlık, 128’inde(%33.9) pri¬mer vezikoüreteral reflü, 34’ünde(%9) renal agenezi, 19’unda(%5.1) ektopik böbrek, 19’unda(%5.1) çift toplayıcı sistem, 16’sında(%4.2) at nalı böbrek, 15’inde(%3.8) renal hipoplazi, 14’ünde(%3.8) polikistik böbrek, 13’ünde(%3.4) multikistik displastik böbrek, 11’inde(%2.9) üreterovezikal darlık, üreterosel 10’unda(%2.7), 9’unda(%2.4) posterior üretral valv ve 1(%0.3) olguda üretra hipoplazisi tespit edildi.Olguların 87’inde(%22.9) böbrekte skar ve 13’ünde(%3.4) kronik böbrek hastalığı (KBH) mevcuttu. Olguların 43’ünde birden çok CAKUT formu mevcuttu. Ailede CAKUT öyküsü olan olgu 29(%7.7) olarak tespit edildi. 

Sonuç: CAKUT tüm hayat boyunca ciddi morbiditeye neden olabilir. Çocukların antenatal dönemden itibaren dikkatli ve düzenli takibi önemlidir. Tedavi gereken vakalarda erken dönemde teşhis, kalıcı renal hasar riskini azaltmakla birlikte halen ülkemizde KBH için önem rol oynamaktadır. 

Anahtar Kelimeler

• Konjenital anomali,renal hasar,çocukluk çağı

Kaynakça

1. 1.Schedl A. Renal abnormalities and their developmental origin. Nat Rev Genet. 2007;8:791– 802.
3. 2. Hildebrandt F. Genetic kidney diseases. Lancet 2010;375:1287-1295.
5. 3. Harambat J. et al. Epidemiology of chronic kidney disease in children. Pediatr Nephrol. 2012;27:363- 373.
7. 4. Wiesel A. et al. EUROSCAN Study Group. Prenatal detection of congenital renal malformations by fetal ultrasonographic examination: an analysis of 709,030 births in 12 European countries. Eur J Med Genet. 2005;48(2):131–144.

9. 5. Livera LN. et al. Antenatal ultrasonography to detect fetal renal abnormalities: a prospective screening programme. BMJ. 1989;298(6685):1421– 1423.
11. 6. Caiulo VA. et al. Ultrasound mass screening for congenital anomalies of the kidney and urinary tract. Pediatr Nephrol. 2012;27(6):949–953.
13. 7. A. Daneman and D. J. Alton. Radiographic manifestations of renal anomalies.Radiologic Clinics of North America 1991;29:351–363.
15. 8. Scott JE, Renwick M. Antenatal diagnosis of congenital abnormalities in the urinary tract. Results from the Northern Region Fetal Abnormality Survey. Br J Urol. 1988;62:295–300.
17. 9. Miyazaki Y. et al. Bone morphogenetic protein 4 regulates the budding site and elongation of the mouse ureter. J Clin Invest 2001;105:863–873.
19. 10. Rosenblum ND, Salomon R. Disorders of kidney formation. In: Geary DF, Schaefer F (eds). Comprehensive Pediatric Nephrology. Mosby- Elsevier, Philadelphia, 2008;132-141.
21. 11. Yosypiv IV Congenital anomalies of the kidney and urinary tract: a genetic disorder? Int J Nephrol 2012; 2012:909083 doi: 10.1155/2012/909083.
23. 12. Chen F. Genetic and developmental basis for urinary tract obstruction. Pediatr Nephrol 2005;24:1621-1632.
25. 13.K. Nakanishi, N. Yoshikawa. Genetic disorders of human congenital anomalies of the kidney and urinary tract (CAKUT), Pediatrics International 2003;5:610–616.
27. 14. Bulum B, Ozçakar ZB, Ustüner E, Düşünceli E, Kavaz A, Duman D, et al. High frequency of kidney and urinary tract anomalies in asymptomatic first- degree relatives of patients with CAKUT. Pediatr Nephrol 2013;28:2143-2147.
29. 15. Seikaly MG. et al. Chronic renal insufficiency in children: the 2001 Annual Report of the NAPRTCS. Pediatr Nephrol. 2003;18(8):796-804.
31. 16. Loane M. et al. EUROCAT Working Group. Paper 4: EUROCAT statistical monitoring: Identification and investigation of ten year trends of congenital anomalies in Europe. 2011 Birth Defects Res A Clin Mol Teratol. 91 Suppl 1:S31–43.
33. Medical Journal of Western Black Sea
35. Bu makaleye yapılacak atıf: Gemici A., Atmış B., Ergün R. Çocuklarda konjenital böbrek ve üriner kanal anomalisi(CAKUT); tek merkez deneyimi. Med J West Black Sea.2019;3(3):93-100.
36. 100
37. 17. Wühl E. et al. Timing and outcome of renal replacement therapy in patients with congenital malformations of the kidney and urinary tract. Clin J Am Soc Nephrol 2013 Jan;8(1):67-74.
39. 18. Şimşek F, Tinay İ. Çocuklarda üretero-pelvik bileşke obstrüksiyonları. Klinik Gelişim 2008;21:24-27.
41. 19. Gunn TR. et al. Antenatal diagnosisof urinary tract abnormalities by ultrasonography after 28 weeks gestation: incidance and outcome. Am J Obstet Gynecol 1995;172:479-486.
43. 20. Liang CC. et al. Outcome of prenatally diagnosed fetal hydronephrosis. J. Reprod. Med. 2002;47:27-32.
45. 21. Ulman İ, Divarcı E. Çocuklarda obstrüktif üropatiler. Türk Ped Arş 2010;45:85-89.
47. 22. Quirino IG. et al. Clinical course of 822 children with prenatally detected nephrouropathies. Clin J Am Soc Nephrol 2012;7:444-451.
49. 23. Dillon MJ, Goonasekera CD. Reflux nephropathy. J Am Soc Nephrol. 1998;9(12):2377– 2383.
51. 24. Lu W. et al. Distrution of ROBO2 is associated with urianary tract anomalies and cınfers risk of vesicourethral reflux. Am J Hum Genet 2007;80:616-632.
53. 25. Rajesh Yalvarthy, Chirag R Parikh. Congenital renal agenesis Suudi Journal of Kidney Disease and transplantation 2003;14:336-341.
55. 26. Westland R. et al. Unilateral renal agenesis: a systematic review on associated anomalies and renal injury. Nephrol Dial Transplant. 2013;28(7):1844– 1855.
57. 27. Westland R. et al. Renal injury in children with a solitary functioning kidney--the KIMONO study. Nephrol Dial Transplant 2011;26:1533-1541.
59. 28. Yuksel A, Batukan C. Sonographic findings of fetuses with an empty renal fossa and normal amniotic fluid volume. Fetal Diagn Ther.2004;19(6):525–532.
61. 29. David G, Botswick Liong Cheng. Urologic surgical pathology 2008;323:1970-1975.
63. 30. Bauel SB, Wein A. Anomalies of upper urinary tract; Campell-Walsh Urology 2007;17:3269-3304.
65. 31. Elmacı A. M., Akın F. Clinical and demographic characteristics of children with congenital anomaly of kidney and urinary tract Dicle Medical Journal. 2014;41(2):309-312.
67. 32. Nordmark B. Double formation of the kidneys and ureters, embryology, occurance and clinical significans. Acta Radiol. 1948;30:276-278.
69. 33. Schulman J. et al. Surveillance for and comparison of birth defect prevalences in two geographic areas: United States, 1983-88. MMWR CDC Surveill Summ. 1993;42(1):1–7.
71. 34. Numanoğlu Yurdakan G. Et al. Renal hypoplastic dysplasia. OMÜ Tıp dergisi; 2008;25(1):25-29.
73. 35. Tiryaki S. et al. Involution of multicystic dysplastic kidney: is it predictable? J Pediatr Urol 2013;9:344-347.
75. 36. Becker AM. Postnatal evaluation of infants with an abnormal antenatal renal sonogram. Curr Opin Pediatr 2009;21:207- 213.
77. 37. Martin I. Resnick, Robert A. Older. Diagnosis of genitourinary disease; second edition, 1997; 573- 577.
79. 38. Grigoris C, Kousidis. Posterior Urethral Valve; Essential in Pediatric Urology; 2012; 115-124.
81. 39. Kibar Y. et al. Timing of posterior urethral valve diagnosis and its impact on clinical outcome. J Pediatr Urol 2011;7:538-542.
83. 40. Gargah T. et al. Posterior urethral valves: About a series of 44 cases Tunis Med 2010; 88(8):557-562.