Derleme
BibTex RIS Kaynak Göster

Böbrek ve İdrar Yolu Anomalilerinin Gelişimsel ve Genetik Temelleri: CAKUT'un Anatomik ve Klinik İncelemesi

Yıl 2025, Cilt: 5 Sayı: 1, 103 - 114

Öz

Konjenital böbrek ve idrar yolu anomalileri (CAKUT), embriyonik dönemlerde böbrek parankiminin, idrar toplama sisteminin, alt idrar yollarının veya böbreklerin anormal gelişiminden kaynaklanan geniş bir hastalık yelpazesini tanımlar. CAKUT hastalarının yüksek yüzdeleri, vesikoureteral reflü (%25), üreterovesikal bileşke tıkanıklığı (%11) ve üreteropelvik bileşke tıkanıklığı (%25) gibi alt idrar yolu anomalilerine sahiptir. Böbrek anomalileri, prenatal dönem boyunca yaygın olarak görülmekte olup, tüm tespit edilen anomalilerin yaklaşık %20-30'unu oluşturur. CAKUT terimi, birden fazla kistik displastik böbrek ve hafif unilateral hidronefroz gibi hastalıkları içeren bir grup hastalığı tanımlar. CAKUT olanların prognozu önemli ölçüde farklılık gösterebilir; bazı kişiler ideal böbrek fonksiyonuna sahip olabilirken, diğerleri kronik böbrek hastalığı yaşayabilir ve sonunda diyaliz ve böbrek nakli gerekebilir. CAKUT etiyolojisi hakkında hala olumsuz görüşler mevcuttur. Ailevi kümelenme yaygın olsa da birçok CAKUT örneği sporadik olduğundan, genetik değişkenlerin CAKUT özelliklerini etkileyebileceği düşünülmektedir. Embriyolojiyi içeren birçok çalışma CAKUT'un genetik bileşenleri üzerine ışık tutmuş, ancak bu alandaki araştırmalar devam etmektedir. Bu çalışma, CAKUT'un embriyonik böbrek gelişimindeki kritik aşamaları ve farklı CAKUT tiplerini detaylı bir şekilde ele almaktadır. Ayrıca, literatürdeki CAKUT hastalarının uzun vadeli izleme ve tedavi yöntemlerini de incelemektedir.

Kaynakça

  • Ahram, D. F., Lim, T. Y., Ke, J., Jin, G., Verbitsky, M., Bodria, M., Kil, B. H., Chatterjee, D., Piva, S. E., Marasa, M., Zhang, J. Y., Cocchi, E., Caridi, G., Gucev, Z., Lozanovski, V. J., Pisani, I., Izzi, C., Savoldi, G., Gnutti, B., … Sanna-Cherchi, S. (2023). Rare single nucleotide and copy number variants and the etiology of congenital obstructive uropathy: Implications for genetic diagnosis. Journal of the American Society of Nephrology, 34(6), 1105–1119. https://doi.org/10.1681/ASN.0000000000000132
  • Avanoglu, A., & Tiryaki, S. (2020). Embryology and Morphological (Mal)Development of UPJ. Frontiers in Pediatrics, 8, 137. https://doi.org/10.3389/fped.2020.00137
  • Bates, C., Ho, J., & Sims-Lucas, S. (2016). Embryonic Development of the Kidney. In E. D. Avner, W. E. Harmon, P. Niaudet, N. Yoshikawa, F. Emma, & S. L. Goldstein (Eds.), Pediatric Nephrology (pp. 3–36). Springer. https://doi.org/10.1007/978-3-662-43596-0_1
  • Bingham, G., & Rentea, R. (2021). Posterior Urethral Valve. StatPearls. Retrieved from: https://scholarlyexchange.childrensmercy.org/papers/3289
  • Chapman, A. B. (2007). Autosomal Dominant polycystic kidney disease: Time for a change? Journal of the American Society of Nephrology, 18(5), 1399–1407. https://doi.org/10.1681/ASN.2007020155
  • Chen, F. (2009). Genetic and developmental basis for urinary tract obstruction. Pediatric Nephrology, 24(9), 1621–1632. https://doi.org/10.1007/s00467-008-1072-y
  • Chevalier, R. L. (2004). Perinatal obstructive nephropathy. Seminars in Perinatology, 28(2), 124–131. https://doi.org/10.1053/j.semperi.2003.11.009
  • Chow, J. S., Benson, C. B., & Lebowitz, R. L. (2005). The clinical significance of an empty renal fossa on prenatal sonography. Journal of Ultrasound in Medicine, 24(8), 1049–1054. https://doi.org/10.7863/jum.2005.24.8.1049
  • Churchill, D. N., Bear, J. C., Morgan, J., Payne, R. H., McManamon, P. J., & Gault, M. H. (1984). Prognosis of adult onset polycystic kidney disease re-evaluated. Kidney International, 26(2), 190–193. https://doi.org/10.1038/ki.1984.154
  • Cleveland, R. H., Kushner, D. C., Herman, T. E., & Kim, S. H. (1986). Acquired ureteropelvic junction obstruction in childhood. Pediatric Radiology, 16(1), 76–78. https://doi.org/10.1007/BF02387516
  • Dabra, A., Gupta, R., Singh, J., & Kochhar, S. (2003). Prenatal diagnosis of familial ureteropelvic junction obstruction: A case report and review of the literature. Journal of Diagnostic Medical Sonography, 19(5), 316–319. https://doi.org/10.1177/8756479303256084
  • Di Fabrizio, D., Tavolario, I., Rossi, L., Nino, F., Bindi, E., & Cobellis, G. (2024). Combined minimally ınvasive treatment of pyeloureteral junction obstruction and primary obstructive megaureter in children: Case report and literature review. Children, 11(4), 407. https://doi.org/10.3390/children11040407
  • Dos Santos Junior, A. C. S., De Miranda, D. M., & Simões E Silva, A. C. (2014). Congenital anomalies of the kidney and urinary tract: An embryogenetic review. Birth Defects Research Part C: Embryo Today: Reviews, 102(4), 374–381. https://doi.org/10.1002/bdrc.21084
  • Enrique, K.-K., & Raquel, C.-S. (2021). Bilateral hydronephrosis as a consequence of vesicoureteral reflux in a 6-year-old male patient. Clinical Medical Reviews and Case Reports, 8(5). https://doi.org/10.23937/2378-3656/1410350
  • Feldenberg, L. R., & Siegel, N. J. (2000). Clinical course and outcome for children with multicystic dysplastic kidneys. Pediatric Nephrology, 14(12), 1098–1101. https://doi.org/10.1007/s004670000391
  • Fletcher, J., McDonald, S., & Alexander, S. I. (2013). Prevalence of genetic renal disease in children. Pediatric Nephrology, 28(2), 251–256. https://doi.org/10.1007/s00467-012-2306-6
  • Gonzalez, E., Gutierrez, E., Morales, E., Hernandez, E., Andres, A., Bello, I., Diaz-gonzalez, R., Leiva, O., & Praga, M. (2005). Factors influencing the progression of renal damage in patients with unilateral renal agenesis and remnant kidney. Kidney International, 68(1), 263–270. https://doi.org/10.1111/j.1523-1755.2005.00401.x
  • Grinsell, M. M., Butz, K., Gurka, M. J., Gurka, K. K., & Norwood, V. (2012). Sport-related kidney ınjury among high school athletes. Pediatrics, 130(1), e40–e45. https://doi.org/10.1542/peds.2011-2082
  • Guarino, N., Tadini, B., Camardi, P., Silvestro, L., Lace, R., & Bianchi, M. (2004). The incidence of associated urological abnormalities in children with renal ectopia. Journal of Urology, 172(4 Part 2), 1757–1759. https://doi.org/10.1097/01.ju.0000138376.93343.74
  • Halvorson, C. R., Bremmer, M. S., & Jacobs, S. C. (2010). Polycystic kidney disease: Inheritance, pathophysiology, prognosis, and treatment. International Journal of Nephrology and Renovascular Disease, 3, 69–83. https://doi.org/10.2147/ijnrd.s6939
  • Kajbafzadeh, A.-M., Payabvash, S., Salmasi, A. H., Monajemzadeh, M., & Tavangar, S. M. (2006). Smooth muscle cell apoptosis and defective neural development in congenital ureteropelvic junction obstruction. Journal of Urology, 176(2), 718–723. https://doi.org/10.1016/j.juro.2006.03.041
  • Klein, J., Gonzalez, J., Miravete, M., Caubet, C., Chaaya, R., Decramer, S., Bandin, F., Bascands, J.-L., Buffin-Meyer, B., & Schanstra, J. P. (2011). Congenital ureteropelvic junction obstruction: Human disease and animal models: Congenital UPJ obstruction. International Journal of Experimental Pathology, 92(3), 168–192. https://doi.org/10.1111/j.1365-2613.2010.00727.x
  • Kovesdy, C. P., Furth, S. L., Zoccali, C., & on behalf of the World Kidney Day Steering Committee. (2017). Obesity and kidney disease: Hidden consequences of the epidemic. Canadian Journal of Kidney Health and Disease, 4, 205435811769866. https://doi.org/10.1177/2054358117698669
  • Liu, B., & Fu, D. (2014). Low compliance bladder plays a role in hydronephrosis in lupus cystitis: A case report. Lupus, 23(8), 829–832. https://doi.org/10.1177/0961203314526440
  • Malekshahabi, T., Khoshdel Rad, N., Serra, A. L., & Moghadasali, R. (2019). Autosomal dominant polycystic kidney disease: Disrupted pathways and potential therapeutic interventions. Journal of Cellular Physiology, 234(8), 12451–12470. https://doi.org/10.1002/jcp.28094
  • Malhotra, G., Dhale, A., & Dharamshi, J. D. (2022). Horseshoe kidney with a documented giant calculi: A case report. Cureus. https://doi.org/10.7759/cureus.29144
  • Mehrazma, M., Tanzifi, P., & Rakhshani, N. (2014). Changes in structure, interstitial cajal-like cells and apoptosis of smooth muscle cells in congenital ureteropelvic junction obstruction. Pathology, 46, S134. https://doi.org/10.1097/01.pat.0000454556.77877.27
  • Nasir, A. A., Ameh, E. A., Abdur-Rahman, L. O., Adeniran, J. O., & Abraham, M. K. (2011). Posterior urethral valve. World Journal of Pediatrics, 7(3), 205–216. https://doi.org/10.1007/s12519-011-0289-1
  • N’Guessen, G., Douglas Stephens, F., & Pick, J. (1984). Congenital superior ectopic (Thoracic) kidney. Urology, 24(3), 219–228. https://doi.org/10.1016/0090-4295(84)90346-7
  • Özel, Ş. K., Emir, H., Dervişoğlu, S., Akpolat, N., Şenel, B., Kazez, A., Söylet, Y., Çetin, G., Danişmend, N., & Büyükünal, S. N. C. (2010). The roles of extracellular matrix proteins, apoptosis and c-kit positive cells in the pathogenesis of ureteropelvic junction obstruction. Journal of Pediatric Urology, 6(2), 125–129. https://doi.org/10.1016/j.jpurol.2009.07.011
  • Petrović, M., Andrejević, V., Djurasić, L., Stamenković, V., Acimović, M., Pejcić, T., Dragoslav, B., & Hadzi-Djokić, J. (2012). Tumors of the horseshoe kidney—Characteristics and literature review. Acta Chirurgica Iugoslavica, 59(1), 53–55.
  • Rabani, S. M., & Mousavizadeh, A. (2017). The dilemma of ureterovesical junction obstruction. Nephro-Urology Monthly, 9(5). https://doi.org/10.5812/numonthly.57201
  • Rasouly, H. M., & Lu, W. (2013). Lower urinary tract development and disease. WIREs Systems Biology and Medicine, 5(3), 307–342. https://doi.org/10.1002/wsbm.1212
  • Raviv, G., Leibovitch, L., Shenfeld, O., Mor, Y., Jonas, P., & Goldwasser, B. (1994). Ureteropelvic junction obstruction: Relation of etiology and age at surgical repair to clinical outcome. Urologia Internationalis, 52(3), 135–139. https://doi.org/10.1159/000282592
  • Rudnik-Schöneborn, S., John, U., Deget, F., Ehrich, J. H. H., Misselwitz, J., & Zerres, K. (1998). Clinical features of unilateral multicystic renal dysplasia in children. European Journal of Pediatrics, 157(8), 666–672. https://doi.org/10.1007/s004310050908
  • Sagi-Dain, L., Maya, I., Peleg, A., Reches, A., Banne, E., Baris, H. N., Tenne, T., Singer, A., & Ben-Shachar, S. (2018). Microarray analysis in pregnancies with isolated unilateral kidney agenesis. Pediatric Research, 83(4), 825–828. https://doi.org/10.1038/pr.2018.3
  • Seely, J. C. (2017). A brief review of kidney development, maturation, developmental abnormalities, and drug toxicity: Juvenile animal relevancy. Journal of Toxicologic Pathology, 30(2), 125–133. https://doi.org/10.1293/tox.2017-0006
  • Seikaly, M. G., Ho, P. L., Emmett, L., Fine, R. N., & Tejani, A. (2003). Chronic renal insufficiency in children: The 2001 Annual Report of the NAPRTCS. Pediatric Nephrology, 18(8), 796–804. https://doi.org/10.1007/s00467-003-1158-5
  • Shin, Y. B., & Park, J. H. (2016). Recent Trends in ADPKD Research. In J. H. Park & C. Ahn (Eds.), Cystogenesis (Vol. 933, pp. 3–11). Springer Singapore. https://doi.org/10.1007/978-981-10-2041-4_1
  • Stonebrook, E., Hoff, M., & Spencer, J. D. (2019). Congenital anomalies of the kidney and urinary tract: A clinical review. Current Treatment Options in Pediatrics, 5(3), 223–235. https://doi.org/10.1007/s40746-019-00166-3
  • Subramanian, S., & Ahmad, T. (2019). Polycystic kidney disease of childhood. Retrieved from: https://europepmc.org/article/nbk/nbk537137
  • Takeuchi, H., Koyanagi, T., Yoshizato, T., Takashima, T., Satoh, S., & Nakano, H. (1994). Fetal urine production at different gestational ages: Correlation to various compromised fetuses in utero. Early Human Development, 40(1), 1–11. https://doi.org/10.1016/0378-3782(94)90094-9
  • Tangri, N., Hougen, I., Alam, A., Perrone, R., McFarlane, P., & Pei, Y. (2017). Total kidney volume as a biomarker of disease progression in autosomal dominant polycystic kidney disease. Canadian Journal of Kidney Health and Disease, 4, 205435811769335. https://doi.org/10.1177/2054358117693355
  • Tkocz, M., & Kupajski, M. (2012). Tumour in horseshoe kidney – different surgical treatment shown in five example cases. Współczesna Onkologia, 3, 254–257. https://doi.org/10.5114/wo.2012.29295
  • Toka, H. R., Toka, O., Hariri, A., & Nguyen, H. T. (2010). Congenital anomalies of kidney and urinary tract. Seminars in Nephrology, 30(4), 374–386. https://doi.org/10.1016/j.semnephrol.2010.06.004
  • Torra, R. (2019). Recent advances in the clinical management of autosomal dominant polycystic kidney disease. F1000Research, 8, 116. https://doi.org/10.12688/f1000research.17109.1
  • Uberoi, J., Disick, G. I. S., & Munver, R. (2009). Minimally invasive surgical management of pelvic‐ureteric junction obstruction: Update on the current status of robotic‐assisted pyeloplasty. BJU International, 104(11), 1722–1729. https://doi.org/10.1111/j.1464-410X.2009.08682.x
  • Urisarri, A., Gil, M., Mandiá, N., Aldamiz-Echevarría, L., Iria, R., González-Lamuño, D., & Couce, M.-L. (2018). Retrospective study to identify risk factors for chronic kidney disease in children with congenital solitary functioning kidney detected by neonatal renal ultrasound screening. Medicine, 97(32), e11819. https://doi.org/10.1097/MD.0000000000011819
  • Van Den Bosch, C. M. A., Van Wijk, J. A. E., Beckers, G. M. A., Van Der Horst, H. J. R., Schreuder, M. F., & Bökenkamp, A. (2010). Urological and nephrological findings of renal ectopia. Journal of Urology, 183(4), 1574–1578. https://doi.org/10.1016/j.juro.2009.12.041
  • Walker, E. Y. X., Winyard, P., & Marlais, M. (2023). Congenital anomalies of the kidney and urinary tract: Antenatal diagnosis, management and counselling of families. Pediatric Nephrology. https://doi.org/10.1007/s00467-023-06137-z
  • Westland, R., & Schreuder, M. F. (2014). Gender differences in solitary functioning kidney: Do they affect renal outcome? Pediatric Nephrology, 29(11), 2243–2244. https://doi.org/10.1007/s00467-013-2473-0
  • Yecies, T., Turner Іi, R. M., Ferroni, M. C., Jacobs, B. L., & Davies, B. J. (2016). Partial and hemi-nephrectomy for renal malignancy in patients with horseshoe kidney. The Canadian Journal of Urology, 23(1), 8156–8159.

Developmental and Genetic Foundations of Kidney and Urinary Tract Anomalies: An Anatomical and Clinical Exploration of CAKUT

Yıl 2025, Cilt: 5 Sayı: 1, 103 - 114

Öz

Congenital anomalies of the kidney and urinary tract (CAKUT) describe a broad spectrum of diseases resulting from aberrant development of the renal parenchyma, urinary collecting system, lower urinary tract, or kidneys during embryonic stages. Higher percentages of patients with CAKUT have lower urinary abnormalities, such as vesicoureteral reflux (25%), ureterovesical junction obstruction (11%), and ureteropelvic junction obstruction (25%). Kidney abnormalities are known to be prevalent throughout the prenatal period, making up roughly 20–30% of all detected anomalies. The term "CAKUT" refers to a group of diseases that include multiple cystic dysplastic kidneys and mild unilateral hydronephrosis. The prognosis of those with CAKUT can differ significantly; while some individuals may have ideal kidney function, others may experience chronic kidney disease requiring dialysis and kidney transplantation. There are still negative opinions about the etiology of CAKUT. Although familial clustering is common, many CAKUT instances are sporadic, indicating that genetic variables may influence CAKUT characteristics. Numerous studies focusing on embryology have shed light on the genetic components of CAKUT, but research in this area is ongoing. This study comprehensively explores the critical stages of embryonic kidney development and different types of CAKUT. Additionally, it examines long-term monitoring and treatment modalities for CAKUT patients It also examines the long-term monitoring and treatment methods of CAKUT patients in the literature.

Kaynakça

  • Ahram, D. F., Lim, T. Y., Ke, J., Jin, G., Verbitsky, M., Bodria, M., Kil, B. H., Chatterjee, D., Piva, S. E., Marasa, M., Zhang, J. Y., Cocchi, E., Caridi, G., Gucev, Z., Lozanovski, V. J., Pisani, I., Izzi, C., Savoldi, G., Gnutti, B., … Sanna-Cherchi, S. (2023). Rare single nucleotide and copy number variants and the etiology of congenital obstructive uropathy: Implications for genetic diagnosis. Journal of the American Society of Nephrology, 34(6), 1105–1119. https://doi.org/10.1681/ASN.0000000000000132
  • Avanoglu, A., & Tiryaki, S. (2020). Embryology and Morphological (Mal)Development of UPJ. Frontiers in Pediatrics, 8, 137. https://doi.org/10.3389/fped.2020.00137
  • Bates, C., Ho, J., & Sims-Lucas, S. (2016). Embryonic Development of the Kidney. In E. D. Avner, W. E. Harmon, P. Niaudet, N. Yoshikawa, F. Emma, & S. L. Goldstein (Eds.), Pediatric Nephrology (pp. 3–36). Springer. https://doi.org/10.1007/978-3-662-43596-0_1
  • Bingham, G., & Rentea, R. (2021). Posterior Urethral Valve. StatPearls. Retrieved from: https://scholarlyexchange.childrensmercy.org/papers/3289
  • Chapman, A. B. (2007). Autosomal Dominant polycystic kidney disease: Time for a change? Journal of the American Society of Nephrology, 18(5), 1399–1407. https://doi.org/10.1681/ASN.2007020155
  • Chen, F. (2009). Genetic and developmental basis for urinary tract obstruction. Pediatric Nephrology, 24(9), 1621–1632. https://doi.org/10.1007/s00467-008-1072-y
  • Chevalier, R. L. (2004). Perinatal obstructive nephropathy. Seminars in Perinatology, 28(2), 124–131. https://doi.org/10.1053/j.semperi.2003.11.009
  • Chow, J. S., Benson, C. B., & Lebowitz, R. L. (2005). The clinical significance of an empty renal fossa on prenatal sonography. Journal of Ultrasound in Medicine, 24(8), 1049–1054. https://doi.org/10.7863/jum.2005.24.8.1049
  • Churchill, D. N., Bear, J. C., Morgan, J., Payne, R. H., McManamon, P. J., & Gault, M. H. (1984). Prognosis of adult onset polycystic kidney disease re-evaluated. Kidney International, 26(2), 190–193. https://doi.org/10.1038/ki.1984.154
  • Cleveland, R. H., Kushner, D. C., Herman, T. E., & Kim, S. H. (1986). Acquired ureteropelvic junction obstruction in childhood. Pediatric Radiology, 16(1), 76–78. https://doi.org/10.1007/BF02387516
  • Dabra, A., Gupta, R., Singh, J., & Kochhar, S. (2003). Prenatal diagnosis of familial ureteropelvic junction obstruction: A case report and review of the literature. Journal of Diagnostic Medical Sonography, 19(5), 316–319. https://doi.org/10.1177/8756479303256084
  • Di Fabrizio, D., Tavolario, I., Rossi, L., Nino, F., Bindi, E., & Cobellis, G. (2024). Combined minimally ınvasive treatment of pyeloureteral junction obstruction and primary obstructive megaureter in children: Case report and literature review. Children, 11(4), 407. https://doi.org/10.3390/children11040407
  • Dos Santos Junior, A. C. S., De Miranda, D. M., & Simões E Silva, A. C. (2014). Congenital anomalies of the kidney and urinary tract: An embryogenetic review. Birth Defects Research Part C: Embryo Today: Reviews, 102(4), 374–381. https://doi.org/10.1002/bdrc.21084
  • Enrique, K.-K., & Raquel, C.-S. (2021). Bilateral hydronephrosis as a consequence of vesicoureteral reflux in a 6-year-old male patient. Clinical Medical Reviews and Case Reports, 8(5). https://doi.org/10.23937/2378-3656/1410350
  • Feldenberg, L. R., & Siegel, N. J. (2000). Clinical course and outcome for children with multicystic dysplastic kidneys. Pediatric Nephrology, 14(12), 1098–1101. https://doi.org/10.1007/s004670000391
  • Fletcher, J., McDonald, S., & Alexander, S. I. (2013). Prevalence of genetic renal disease in children. Pediatric Nephrology, 28(2), 251–256. https://doi.org/10.1007/s00467-012-2306-6
  • Gonzalez, E., Gutierrez, E., Morales, E., Hernandez, E., Andres, A., Bello, I., Diaz-gonzalez, R., Leiva, O., & Praga, M. (2005). Factors influencing the progression of renal damage in patients with unilateral renal agenesis and remnant kidney. Kidney International, 68(1), 263–270. https://doi.org/10.1111/j.1523-1755.2005.00401.x
  • Grinsell, M. M., Butz, K., Gurka, M. J., Gurka, K. K., & Norwood, V. (2012). Sport-related kidney ınjury among high school athletes. Pediatrics, 130(1), e40–e45. https://doi.org/10.1542/peds.2011-2082
  • Guarino, N., Tadini, B., Camardi, P., Silvestro, L., Lace, R., & Bianchi, M. (2004). The incidence of associated urological abnormalities in children with renal ectopia. Journal of Urology, 172(4 Part 2), 1757–1759. https://doi.org/10.1097/01.ju.0000138376.93343.74
  • Halvorson, C. R., Bremmer, M. S., & Jacobs, S. C. (2010). Polycystic kidney disease: Inheritance, pathophysiology, prognosis, and treatment. International Journal of Nephrology and Renovascular Disease, 3, 69–83. https://doi.org/10.2147/ijnrd.s6939
  • Kajbafzadeh, A.-M., Payabvash, S., Salmasi, A. H., Monajemzadeh, M., & Tavangar, S. M. (2006). Smooth muscle cell apoptosis and defective neural development in congenital ureteropelvic junction obstruction. Journal of Urology, 176(2), 718–723. https://doi.org/10.1016/j.juro.2006.03.041
  • Klein, J., Gonzalez, J., Miravete, M., Caubet, C., Chaaya, R., Decramer, S., Bandin, F., Bascands, J.-L., Buffin-Meyer, B., & Schanstra, J. P. (2011). Congenital ureteropelvic junction obstruction: Human disease and animal models: Congenital UPJ obstruction. International Journal of Experimental Pathology, 92(3), 168–192. https://doi.org/10.1111/j.1365-2613.2010.00727.x
  • Kovesdy, C. P., Furth, S. L., Zoccali, C., & on behalf of the World Kidney Day Steering Committee. (2017). Obesity and kidney disease: Hidden consequences of the epidemic. Canadian Journal of Kidney Health and Disease, 4, 205435811769866. https://doi.org/10.1177/2054358117698669
  • Liu, B., & Fu, D. (2014). Low compliance bladder plays a role in hydronephrosis in lupus cystitis: A case report. Lupus, 23(8), 829–832. https://doi.org/10.1177/0961203314526440
  • Malekshahabi, T., Khoshdel Rad, N., Serra, A. L., & Moghadasali, R. (2019). Autosomal dominant polycystic kidney disease: Disrupted pathways and potential therapeutic interventions. Journal of Cellular Physiology, 234(8), 12451–12470. https://doi.org/10.1002/jcp.28094
  • Malhotra, G., Dhale, A., & Dharamshi, J. D. (2022). Horseshoe kidney with a documented giant calculi: A case report. Cureus. https://doi.org/10.7759/cureus.29144
  • Mehrazma, M., Tanzifi, P., & Rakhshani, N. (2014). Changes in structure, interstitial cajal-like cells and apoptosis of smooth muscle cells in congenital ureteropelvic junction obstruction. Pathology, 46, S134. https://doi.org/10.1097/01.pat.0000454556.77877.27
  • Nasir, A. A., Ameh, E. A., Abdur-Rahman, L. O., Adeniran, J. O., & Abraham, M. K. (2011). Posterior urethral valve. World Journal of Pediatrics, 7(3), 205–216. https://doi.org/10.1007/s12519-011-0289-1
  • N’Guessen, G., Douglas Stephens, F., & Pick, J. (1984). Congenital superior ectopic (Thoracic) kidney. Urology, 24(3), 219–228. https://doi.org/10.1016/0090-4295(84)90346-7
  • Özel, Ş. K., Emir, H., Dervişoğlu, S., Akpolat, N., Şenel, B., Kazez, A., Söylet, Y., Çetin, G., Danişmend, N., & Büyükünal, S. N. C. (2010). The roles of extracellular matrix proteins, apoptosis and c-kit positive cells in the pathogenesis of ureteropelvic junction obstruction. Journal of Pediatric Urology, 6(2), 125–129. https://doi.org/10.1016/j.jpurol.2009.07.011
  • Petrović, M., Andrejević, V., Djurasić, L., Stamenković, V., Acimović, M., Pejcić, T., Dragoslav, B., & Hadzi-Djokić, J. (2012). Tumors of the horseshoe kidney—Characteristics and literature review. Acta Chirurgica Iugoslavica, 59(1), 53–55.
  • Rabani, S. M., & Mousavizadeh, A. (2017). The dilemma of ureterovesical junction obstruction. Nephro-Urology Monthly, 9(5). https://doi.org/10.5812/numonthly.57201
  • Rasouly, H. M., & Lu, W. (2013). Lower urinary tract development and disease. WIREs Systems Biology and Medicine, 5(3), 307–342. https://doi.org/10.1002/wsbm.1212
  • Raviv, G., Leibovitch, L., Shenfeld, O., Mor, Y., Jonas, P., & Goldwasser, B. (1994). Ureteropelvic junction obstruction: Relation of etiology and age at surgical repair to clinical outcome. Urologia Internationalis, 52(3), 135–139. https://doi.org/10.1159/000282592
  • Rudnik-Schöneborn, S., John, U., Deget, F., Ehrich, J. H. H., Misselwitz, J., & Zerres, K. (1998). Clinical features of unilateral multicystic renal dysplasia in children. European Journal of Pediatrics, 157(8), 666–672. https://doi.org/10.1007/s004310050908
  • Sagi-Dain, L., Maya, I., Peleg, A., Reches, A., Banne, E., Baris, H. N., Tenne, T., Singer, A., & Ben-Shachar, S. (2018). Microarray analysis in pregnancies with isolated unilateral kidney agenesis. Pediatric Research, 83(4), 825–828. https://doi.org/10.1038/pr.2018.3
  • Seely, J. C. (2017). A brief review of kidney development, maturation, developmental abnormalities, and drug toxicity: Juvenile animal relevancy. Journal of Toxicologic Pathology, 30(2), 125–133. https://doi.org/10.1293/tox.2017-0006
  • Seikaly, M. G., Ho, P. L., Emmett, L., Fine, R. N., & Tejani, A. (2003). Chronic renal insufficiency in children: The 2001 Annual Report of the NAPRTCS. Pediatric Nephrology, 18(8), 796–804. https://doi.org/10.1007/s00467-003-1158-5
  • Shin, Y. B., & Park, J. H. (2016). Recent Trends in ADPKD Research. In J. H. Park & C. Ahn (Eds.), Cystogenesis (Vol. 933, pp. 3–11). Springer Singapore. https://doi.org/10.1007/978-981-10-2041-4_1
  • Stonebrook, E., Hoff, M., & Spencer, J. D. (2019). Congenital anomalies of the kidney and urinary tract: A clinical review. Current Treatment Options in Pediatrics, 5(3), 223–235. https://doi.org/10.1007/s40746-019-00166-3
  • Subramanian, S., & Ahmad, T. (2019). Polycystic kidney disease of childhood. Retrieved from: https://europepmc.org/article/nbk/nbk537137
  • Takeuchi, H., Koyanagi, T., Yoshizato, T., Takashima, T., Satoh, S., & Nakano, H. (1994). Fetal urine production at different gestational ages: Correlation to various compromised fetuses in utero. Early Human Development, 40(1), 1–11. https://doi.org/10.1016/0378-3782(94)90094-9
  • Tangri, N., Hougen, I., Alam, A., Perrone, R., McFarlane, P., & Pei, Y. (2017). Total kidney volume as a biomarker of disease progression in autosomal dominant polycystic kidney disease. Canadian Journal of Kidney Health and Disease, 4, 205435811769335. https://doi.org/10.1177/2054358117693355
  • Tkocz, M., & Kupajski, M. (2012). Tumour in horseshoe kidney – different surgical treatment shown in five example cases. Współczesna Onkologia, 3, 254–257. https://doi.org/10.5114/wo.2012.29295
  • Toka, H. R., Toka, O., Hariri, A., & Nguyen, H. T. (2010). Congenital anomalies of kidney and urinary tract. Seminars in Nephrology, 30(4), 374–386. https://doi.org/10.1016/j.semnephrol.2010.06.004
  • Torra, R. (2019). Recent advances in the clinical management of autosomal dominant polycystic kidney disease. F1000Research, 8, 116. https://doi.org/10.12688/f1000research.17109.1
  • Uberoi, J., Disick, G. I. S., & Munver, R. (2009). Minimally invasive surgical management of pelvic‐ureteric junction obstruction: Update on the current status of robotic‐assisted pyeloplasty. BJU International, 104(11), 1722–1729. https://doi.org/10.1111/j.1464-410X.2009.08682.x
  • Urisarri, A., Gil, M., Mandiá, N., Aldamiz-Echevarría, L., Iria, R., González-Lamuño, D., & Couce, M.-L. (2018). Retrospective study to identify risk factors for chronic kidney disease in children with congenital solitary functioning kidney detected by neonatal renal ultrasound screening. Medicine, 97(32), e11819. https://doi.org/10.1097/MD.0000000000011819
  • Van Den Bosch, C. M. A., Van Wijk, J. A. E., Beckers, G. M. A., Van Der Horst, H. J. R., Schreuder, M. F., & Bökenkamp, A. (2010). Urological and nephrological findings of renal ectopia. Journal of Urology, 183(4), 1574–1578. https://doi.org/10.1016/j.juro.2009.12.041
  • Walker, E. Y. X., Winyard, P., & Marlais, M. (2023). Congenital anomalies of the kidney and urinary tract: Antenatal diagnosis, management and counselling of families. Pediatric Nephrology. https://doi.org/10.1007/s00467-023-06137-z
  • Westland, R., & Schreuder, M. F. (2014). Gender differences in solitary functioning kidney: Do they affect renal outcome? Pediatric Nephrology, 29(11), 2243–2244. https://doi.org/10.1007/s00467-013-2473-0
  • Yecies, T., Turner Іi, R. M., Ferroni, M. C., Jacobs, B. L., & Davies, B. J. (2016). Partial and hemi-nephrectomy for renal malignancy in patients with horseshoe kidney. The Canadian Journal of Urology, 23(1), 8156–8159.
Toplam 52 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Halk Sağlığı (Diğer)
Bölüm Derlemeler
Yazarlar

Rida Zahiraldin İbrahim Yasin 0009-0005-6683-1186

Necati Emre Şahin 0000-0002-2061-7951

Şeyma Toy 0000-0002-6067-0087

Erken Görünüm Tarihi 30 Nisan 2025
Yayımlanma Tarihi
Gönderilme Tarihi 9 Mayıs 2024
Kabul Tarihi 2 Temmuz 2024
Yayımlandığı Sayı Yıl 2025 Cilt: 5 Sayı: 1

Kaynak Göster

APA Yasin, R. Z. İ., Şahin, N. E., & Toy, Ş. (2025). Developmental and Genetic Foundations of Kidney and Urinary Tract Anomalies: An Anatomical and Clinical Exploration of CAKUT. Unika Sağlık Bilimleri Dergisi, 5(1), 103-114.