Konjenital Böbrek ve Üriner Sistem Anomalileri: Tek Merkez 14 Yıllık Deneyim

GİRİŞ ve AMAÇ: Böbrek ve idrar yollarının konjenital anomalileri (DBÜSA) genellikle asemptomatiktir ve çeşitli toplumlarda son dönem böbrek yetmezliğinin% 30-60' ının sebebidir. ÇalışmamızdA DBÜSA'lı hastaların uzun süreli epidemiyolojik, demografik ve klinik özelliklerini paylaşmayı amaçladık. YÖNTEM ve GEREÇLER: Çalışmaya, Nisan 2002-Ocak 2016 tarihleri arasında Kocaeli Üniversitesi Tıp Fakültesi Pediatrik Nefroloji Anabilim Dalı tarafından takip edilen, 0-18 yaş arası 11725 hastadan toplam 4625 DBÜSA hastası dahil edildi. Toplamda DBÜSA olan 4625 hasta teşhis edildi. Geçici hidronefroz tespit edilen 4164 hasta çalışmadan çıkarıldı. Çalışılan 461 hastanın kayıtları retrospektif olarak değerlendirilmiş ve SPSS 20.0 programı ile analiz edilmiştir. BULGULAR: DBÜSA sıklığı% 3,9 idi. Olguların erkek / kadın oranı % 48,8 (225) /% 51,2 (236) idi. VUR % 31,5 (145) hastada tespit edildi, bunların % 71,7 (104) kadın ve% 28,3 (41) erkekti. Hidronefroz, 75 (% 162) hastada mevcuttu. Bu hastaların antenatal tanı oranı % 30,7 idi (23). UPJ obstrüksiyonu 26 (% 70,2) ve VUR 21 (% 14,4) hidronefroz ile ilişkili en sık konjenital böbrek ve üriner sistem anomalileri idi. Olguların % 50,5 (233) 'ünde idrar yolu enfeksiyonu öyküsü vardı. VUR tanısı olan hastalarda bu sıklık % 90,3 olarak saptandı. Kronik böbrek hastalığı 8 hastada mevcuttu. Bu hastaların 4'ünde (% 50) altta yatan neden VUR idi. TARTIŞMA ve SONUÇ: Son yıllarda, geçici hidronefroz prevalansı antenatal USG'nin yaygın kullanımı ile artmıştır. Bu nedenle uzun dönemde kronik böbrek hastalığı riski yüksek olan DBÜSA'lı hastalar geçici hidronefrozdan ayrılmalı ve üçüncü basamak referans merkezlerinde pediatrik nefroloji ve pediatrik üroloji ile takip edilmelidir.

Anahtar Kelimeler:

Konjenital böbrek ve üriner sistem anomalisi, vezikoüreteral reflü, kronik böbrek hastalığı

Congenital Anomalies of Kidney and Urinary Tract (CAKUT): Single Center Experience for 14 Years

INTRODUCTION: Congenital anomalies of kidney and urinary tract (CAKUT) are usually asymptomatic and the cause of 30-60 % of the end stage renal failure in various societies. We aimed to share the long-term epidemiological, demographic and clinical characteristics of the patients with CAKUT. METHODS: A total of 4625 CAKUT patients, out of 11725 patients aged 0-18 years who were followed up by Kocaeli University School of Medicine Pediatric Nephrology Department between April 2002 and January 2016 were included in the study. In total, 4625 patients with CAKUT were diagnosed and transient hydronephrosis was detected in 4164 patients. These patients were excluded from our study. The records of the patients studied were retrospectively evaluated and analyzed by SPSS 20.0 program. RESULTS: CAKUT frequency was 3.9%. The male / female ratio of the cases was 48.8% (225) / 51.2% (236). VUR was detected in 31.5% (145) patients,71.7% (104) were female and 28.3% (41) male. Hydronephrosis was present in 75 (16.2%) patients. The antenatal diagnosis rate of these patients was 30.7% (23). UPJ obstruction 26 (70.2%) and VUR 21 (14.4%) were the most common congenital renal and urinary system anomalies associated with hydronephrosis. 50.5% (233) of the cases had a history of urinary tract infection. This frequency was significantly higher in patients with VUR diagnosed as 90.3%. Chronic kidney disease was present in 8 patients. The underlying cause in 4 (50%) of these patients was VUR. DISCUSSION AND CONCLUSION: In recent years, the prevalence of transient hydronephrosis has been frequently reported with the widespread use of antenatal USG. Therefore, patients with CAKUT who have a high risk of chronic kidney disease in the long-term should be separated from transient hydronephrosis and followed up at tertiary care reference centers with pediatric nephrology and pediatric urology.

Keywords:

Congenital kidney and urinary tract anomaly, vesicoureteral reflux, chronic kidney disease,

PDF

___

1. Nicolaou N., Renkema KY., Bongers EM., Giles RH., Knoers NV., Genetic, environmental, and epigenetic factors involved in CAKUT. Nat. Rev. Nephrol. 2015 Dec; 11(12):720-31.
2. Queisser-Luft A, Stolz G, Wiesel A, et al. 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.
3. Palacios Loro ML, Segura Ramirez DK, Ordonez Alvarez FA, Santos Rodriguez F. Congenital anomalies of the kidney and urinary tract. A vision for the paediatrician. An Pediatr (Barc) 2015 Dec; 83(6): 442.el-5.
4. Wiesel A, Queisser-Luft A, Clementi M, et al. 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; 48-131.
5. Limwongse C, Cassidy SB. Syndromes and malformations of the urinary tract. In: Pediatric Nephrology, 5th ed, Avner ED, Harmon WE, Niaudet P (Eds), Williams & Wilkins, Philadelphia 2004. p.93.
6. Sanna-Cherchi S, Ravani P, Corbani V, Parodi S, Haupt R, Piaggio G, Degli ML Innocenti, Somenzi D, Trivelli A, Caridi G, Izzi C, Scolari F, Mattioli G, Allegri L and Ghiggeri GM. Renal outcome in patients with congenital anomalies of the kidney and urinary tract. Kidney International 2009 76, 528–33.
7. Fivush BA, Jabs K, Neu AM et al. Chronic renal insufficiency in children and adolescents: the 1996 annual report of NAPRTCS. North Am Ped Renal Transplant Coop Study. Pediatr Nephrol 1998; 12: 328–37.
8. Sanna-Cherchi S, Caridi G, Weng PL, et al. Genetic approaches to human renal agenesis/hypoplasia and dysplasia. Pediatr Nephrol 2007; 22:1675.
9. Kosfeld A, Kreuzer M, Daniel C, Brand F, Schafer AK, Chadt A, Weiss AC, Riehmer V, Jeanpierre C, Klintschar M, Brasen JH, Amann K, Pape L, Kispert A, Al-Hasani H, Haffner D, Weber RG. Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT). Hum Genet. 2016 Jan;135(1):69-87.
10. Abdennadher W, Chalouhi G, Dreux S, et al. Fetal urine biochemistry at 13-23 weeks of gestation in lower urinary tract obstruction: criteria for in-utero treatment. Ultrasound Obstet Gynecol 2015; 46:306.
11. Leibovitch L, Kuint J, Rosenfeld E, et al. Short-term outcome among term singleton infants with intrapartum oligohydramnios. Acta Paediatr 2012; 101:727.
12. Yürük Yıldırım ZN. Konjenital Böbrek Anomalileri. Çocuk Dergisi 2013; 13(4):141-146.
13. Nakanishi K, Yoshikawa N. Genetic disorders of human congenital anomalies of the kidney and urinary tract (CAKUT). Pediatr Int. 2003 Oct;45(5): 610-6.
14. Hollowell JG, Greenfield SP. Screening siblings for vesicoureteral reflux. J Urol 2002; 168: 2138–41.
15. Rosenblum ND., Evaluation of congenital anomalies of kidney and urinary tract (CAKUT) .2016. www.uptodate.com
16. Leibovitch L, Kuint J, Rosenfeld E, et al. Short-term outcome among term singleton infants with intrapartum oligohydramnios. Acta Paediatr 2012; 101:727.
17. Cheng CH, Tsai MH, Huang YC, et al. Antibiotic resistance patternsof community-acquired urinary tract infections in children with vesicoureteral reflux receivingprophylactic antibiotic therapy. Pediatrics 2008; 122:1212.
18. Chand DH, Rhoades T, Poe SA, et al. Incidence and severity of vesicoureteral reflux in children related to age, gender, race and diagnosis. J Urol 2003; 170:1548.
19. Hiraoka M, Hori C, Tsukahara H, et al. Vesicoureteral reflux in male and female neonates as detected by voiding ultrasonography. Kidney Int 1999; 55:1486.
20. Yeung CK, Godley ML, Dhillon HK, et al. The characteristics of primary vesico-ureteric reflux in male and female infants with pre-natal hydronephrosis. Br J Urol 1997; 80:319.
21. Skoog SJ, Peters CA, Arant BS Jr, et al. Pediatric Vesicoureteral Reflux Guidelines Panel Summary Report: Clinical Practice Guidelines for Screening Siblings of Children With Vesicoureteral Reflux and Neonates/Infants With Prenatal Hydronephrosis. J Urol 2010; 184:1145.
22. Birkelund Y, Klemetsen Q, Jacobsen SK, et al. Vesicoureteral reflux in children: a phantom study of microwave heating and radiometric thermometry of pediatric bladder. IEEE Trans Biomed Eng 2011; 58:3269.
23. Arthurs OJ, Edwards AD, Joubert I, et al. Interactive magnetic resonance voiding cystourethrography (iMRVC) for vesicoureteric reflux (VUR) in unsedated infants: a feasibility study. Eur Radiol 2011; 21:1874.
24. Fallah MM, Falahati M, Mohammadi A, et al. Comparative study of color Doppler voiding urosonography without contrast enhancement and direct radionuclide voiding cystography for diagnosis of vesicoureteric reflux in children. J Ultrasound Med 2012; 31:55.
25. Vasanawala SS, Keneddy WA, Ganguly A, et al. MR voiding cystography for evaluation of vesicoureteral reflux. AJR Am J Roentgenol 2009; 192:W206.
26. Hoberman A, Greenfield SP, Mattoo TK et all. Antimicrobial prophlaxis for children with vesicoureteral reflux. RIVUR N Engl J Med. 2014 19;370:2367-76
27. Cheng CH, Tsai MH, Huang YC, et al. Antibiotic resistance patternsof community-acquired urinary tract infections in children with vesicoureteral reflux receivingprophylactic antibiotic therapy. Pediatrics 2008; 122:1212.
28. Al-Sayyad AJ, Pike JG, Leonard MP. Can prophylactic antibiotics safely be discontinued in children with vesicoureteral reflux? J Urol 2005; 174:1587.
29. İseki K, Ikemiya Y, Iseki C, Takishita S. Proteinuria and the risk of developing end-stage renal disease. Kidney Int 2003; 63: 1468–73.