Böbrek ve Üriner Sistemin Doğumsal Anomalileri: 806 Olgunun Analizi

Öz

Öz

Amaç:Böbrek ve üriner sistemin doğumsal anomalileri (BÜSDA) tanımı, konjenital yapısal anomaliler kullanılan bir terimdir. Prenatal ultrasonografinin yaygın kullanıma girmesiyle BÜSDA, çocuk nefroloji ve üroloji vizitlerinin önemli bir bölümünü oluşturmaktadır. Bu retrospektif çalışmada, BÜSDA tanısı ile takip edilen hastaların analizi ve bu hastalardaki renal hasar varlığı araştırılmıştır.

Gereç ve Yöntem: Kliniğimizde 2012-2018 yılları arasında BÜSDA tanısı ile takip edilen hastaların dosyaları retrospektif olarak incelendi. Birden fazla anomalisi olanlar (sendromik olgular vb.) çalışma dışı bırakıldı. Dosyalardan antenatal tanı varlığı, yaş, cinsiyet, görüntüleme ve sintigrafi sonuçları kaydedildi. Ultrasonografi ile takip edilen hastalarda gerektiğinde işeme sistoüretrografisi (İSUG) ve dimerkaptosüksinik asit (DMSA) sintigrafisi kullanıldı.

Bulgular: Çalışmaya 572 erkek (%71) ve 234 kız (%29) olmak üzere toplam 806 hasta dahil edildi. Ortanca yaş 2 ay ve ortanca takip süresi 16 ay olarak bulundu. Hastaların 503’ünde (%62.4) antenatal tanı mevcuttu ve 29 hastada (%3.6) prematür doğum öyküsü mevcuttu. Üst üriner sistemde en sık görülen anomaliler sırasıyla izole hidronefroz (%58.2), ektopik böbrek (%7.8) ve at nalı böbrek (%6.7) idi. Alt üriner sistemde ise konjenital vezikoüreteral reflü (%10.9) ve megaüreterdi (%1.6). Hastalardan 75 olguda (%9.3) renal skar, 53 olguda ise (%6.6) renal hipodisplazi saptandı.

Tartışma: BÜSDA’nın prenatal tanısı renal fonksiyon kaybına neden olabilecek problemlerin erken dönemde tanınması şanısını artırmaktadır. Buna rağmen hastaların ¼’ünden fazlası uzun dönemde tanı almadan kalmaktadır. BÜSDA’lı çocuklar için, uygun tanı ve tedavi ile renal hasarın ilerlemesini önlenmesi gereklidir. 

Anahtar Kelimeler

• BÜSDA,konjenital,anomali,üriner sistem

Congenital Anomalies of the Kidney and the Urinary Tract: Analysis of 806 Cases

Öz

Objective

Congenital anomalies of the kidney and the urinary tract (CAKUT) is a term used for a broad spectrum of congenital structural anomalies. After implementation of prenatal ultrasonography, CAKUT became an important part of pediatric nephrology and urology visits. The aim of this retrospective study is to analyze the outcomes as well as prevelance of renal damage in this group of patients.

Material and Methods

Patients diagnosed with CAKUT between 2012 and 2018 were retrospectively reviewed. Patients with multiple anomalies (i.e.syndromes) were excluded. Presence of antenatal diagnosis, patient age, gender, imaging studies and scintigraphy results were noted. Ultrasonography was used for follow-up imaging, in addition to VCUG and DMSA when needed.

Results

There were 806 patients in our cohort (572 males and 234 females, 71% vs. 29%). Median age was 2 and median follow-up period was 16 months. Only 3.6% of the patients were prematurely born where antenatal diagnosis was present in 503 patients (62.4%). Most common anomalies in the upper urinary tract were isolated hydronephrosis (58.2%), ectopic kidney (7.8%) and horseshoe kidney (6.7%), respectively. On the other hand, VUR (10.9%) was the most common abnormality of the lower urinary tract. Renal scarring was observed in 75 patients (9.3%) while renal hypodysplasia was present in 53 patients (6.6%).

Conclusions

Prenatal diagnosis of CAKUT has increased early diagnosis of problems that may lead to renal function loss. For children with CAKUT, proper diagnosis and follow-up is necessary in order to prevent renal deterioration.

Anahtar Kelimeler

• CAKUT,congenital,anomaly,urinary system

Kaynakça

1. 1. 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). Archives of gynecology and obstetrics 2002;266:163-7.
2. 2. Uy N, Reidy K. Developmental Genetics and Congenital Anomalies of the Kidney and Urinary Tract. J Pediatr Genet 2016;5:51-60.
3. 3. Song R, Yosypiv IV. Genetics of congenital anomalies of the kidney and urinary tract. Pediatr Nephrol 2011;26:353-64.
4. 4. Shapiro E TS. Anomalies of upper urinary tract. In: al. WAJe, editor. Campbell-Walsh Urology Book. 11th ed ed. Philadelphia: WB Saunders; 2016. p. 2975.
5. 5. Capone VP, Morello W, Taroni F, et al. Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play. Int J Mol Sci 2017;18.
6. 6. Yamacake KG, Nguyen HT. Current management of antenatal hydronephrosis. Pediatr Nephrol 2013;28:237-43.
7. 7. Elmacı AM AF. Konjenital böbrek ve üriner kanal anomalisi bulunan çocukların klinik ve demografik özellikleri. Dicle Tıp Derg 2014:309-12.
8. 8. Nguyen HT, Benson CB, Bromley B, et al. Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system). J Pediatr Urol 2014;10:982-98.

9. 9. Longpre M, Nguan A, Macneily AE, et al. Prediction of the outcome of antenatally diagnosed hydronephrosis: a multivariable analysis. J Pediatr Urol 2012;8:135-9.
10. 10. Coelho GM, Bouzada MC, Pereira AK, et al. Outcome of isolated antenatal hydronephrosis: a prospective cohort study. Pediatr Nephrol 2007;22:1727-34.
11. 11. Braga LH, McGrath M, Farrokhyar F, et al. Associations of Initial Society for Fetal Urology Grades and Urinary Tract Dilatation Risk Groups with Clinical Outcomes in Patients with Isolated Prenatal Hydronephrosis. The Journal of urology 2017;197:831-7.
12. 12. Elmaci AM, Donmez MI. Time to resolution of isolated antenatal hydronephrosis with anteroposterior diameter
13. 13. Yang Y, Hou Y, Niu ZB, et al. Long-term follow-up and management of prenatally detected, isolated hydronephrosis. J Pediatr Surg 2010;45:1701-6.
14. 14. Dias CS, Silva JM, Pereira AK, et al. Diagnostic accuracy of renal pelvic dilatation for detecting surgically managed ureteropelvic junction obstruction. The Journal of urology 2013;190:661-6.
15. 15. Mattoo TK MR. Vesicoureteral reflux and renal scarring. In: Avner ED HW, Niaudet P, Yoshikawa N, editor. Pediatric nephrology. Berlin: Springer; 2009. p. 1311–28.
16. 16. Mathew R MT. Vesicoureteral Reflux. In: Geary DF SF, editor. Comprehensive pediatric nephrology. Philadelphia: Mosby Elsevier; 2008. p. 499–525.
17. 17. Sanna-Cherchi S, Ravani P, Corbani V, et al. Renal outcome in patients with congenital anomalies of the kidney and urinary tract. Kidney Int 2009;76:528-33.
18. 18. Wuhl E, van Stralen KJ, Verrina 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;8:67-74.