Anatomy and Cell Biology

Korean Association of Anatomists (대한해부학회)
권호 표지
DOI QR코드

DOI QR Code

Analyzing the factors that contribute to the development of embryological classical type of bladder exstrophy

  • Ria Margiana (Andrology Program, Faculty of Medicine, Airlangga University) ;
  • Widya Juwita (Andrology Program, Faculty of Medicine, Airlangga University) ;
  • Khoirul Ima (Biomedical Sciences, Faculty of Medicine, University of Indonesia) ;
  • Zakiyatul Faizah (Andrology Program, Faculty of Medicine, Airlangga University) ;
  • Supardi Supardi (Andrology Program, Faculty of Medicine, Airlangga University)
  • Received : 2023.02.28
  • Accepted : 2023.06.18
  • Published : 2023.12.31
Download PDF
⟨ Previous Next ⟩

Abstract

Bladder exstrophy is a rare congenital condition of the pelvis, bladder, and lower abdomen that opens the bladder against the abdominal wall, produces aberrant growth, short penis, upward curvature during erection, wide penis, and undescended testes. Exstrophy affects 1/30,000 newborns. The bladder opens against the abdominal wall in bladder exstrophy, a rare genitourinary condition. This study is vital to provide appropriate therapy choices as a basis to improve patient outcomes. This study may explain bladder exstrophy and provide treatment. Epispadias, secretory placenta, cloacal exstrophy, and other embryonic abnormalities comprise the exstrophy-spades complex. The mesenchymal layer does not migrate from the ectoderm and endoderm layers in the first trimester, affecting the cloacal membrane. Embryological problems define the exstrophy-aspidistra complex, which resembles epimedium, classic bladder, cloacal exstrophy, and other diseases. Urogenital ventral body wall anomalies expose the bladder mucosa, causing bladder exstrophy. Genetic mutations in the Hedgehog cascade pathway, Wnt signal, FGF, BMP4, Alx4, Gli3, and ISL1 cause ventral body wall closure and urinary bladder failure. External factors such as high maternal age, smoking moms, and high maternal body mass index have also been associated to bladder exstrophy. Valproic acid increases bladder exstrophy risk; chemicals and pollutants during pregnancy may increase bladder exstrophy risk. Bladder exstrophy has no identified cause despite these risk factors. Exstrophy reconstruction seals the bladder, improves bowel function, reconstructs the vaginal region, and restores urination.

Keywords

Acknowledgement

Special gratitude is extended to the consultant and resident of the Study Program of Andrology at the Faculty of Medicine at Universitas Airlangga, as well as the anatomy staff of the Department of Anatomy at the Faculty of Medicine at Universitas Indonesia, for their assistance in providing advice when this paper was being written.

References

  1. Bawa M, Samalad VM, Kanojia RP, Rao KL. Partial umbilical exstrophy with cecal patch and intact hindgut entering a cloaca: a new variant. J Pediatr Surg 2011;46:244-6. 
  2. Beaudoin S, Simon L, Bargy F. Anatomical basis of a common embryological origin for epispadias and bladder or cloacal exstrophies. Surg Radiol Anat 1997;19:11-6. 
  3. Sisca EM, Pakpahan C, Rezano A, Margiana R, Agustinus A, Tanojo TD. Adult patients with aphallia: were they fertile? Online J Biol Sci 2022;22:214-22. 
  4. Liaw A, Cunha GR, Shen J, Cao M, Liu G, Sinclair A, Baskin L. Development of the human bladder and ureterovesical junction. Differentiation 2018;103:66-73. 
  5. Reinfeldt Engberg G, Mantel A, Fossum M, Nordenskjold A. Maternal and fetal risk factors for bladder exstrophy: a nationwide Swedish case-control study. J Pediatr Urol 2016;12:304.e1-7. 
  6. Siffel C, Correa A, Amar E, Bakker MK, Bermejo-Sanchez E, Bianca S, Castilla EE, Clementi M, Cocchi G, Csaky-Szunyogh M, Feldkamp ML, Landau D, Leoncini E, Li Z, Lowry RB, Marengo LK, Mastroiacovo P, Morgan M, Mutchinick OM, Pierini A, Rissmann A, Ritvanen A, Scarano G, Szabova E, Olney RS. Bladder exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature. Am J Med Genet C Semin Med Genet 2011;157C:321-32. 
  7. Ebert AK, Reutter H, Ludwig M, Rosch WH. The exstrophy-epispadias complex. Orphanet J Rare Dis 2009;4:23. 
  8. Maruf M, Benz K, Jayman J, Kasprenski M, Michaud J, Di Carlo HN, Gearhart JP. Variant presentations of the exstrophy-epispadias complex: a 40-year experience. Urology 2019;125:184-90. 
  9. Baron ME. The encyclopaedia of medical imaging, vol. V. AJR Am J Roentgenol 2001;177:1346. 
  10. Inouye BM, Tourchi A, Massanyi EZ, Gearhart JP, Tekes A. Duplicated pelvic floor musculature and diastematomyelia in a cloacal exstrophy patient. J Radiol Case Rep 2014;8:8-14. 
  11. Kizilcan F, Tanyel FC, Hicsonmez A, Buyukpamukcu N. Superior vesical fissure: an exstrophy variant or a distinct clinical entity. Eur Urol 1994;26:187-8. 
  12. Kazmierski B, Whang G. Congenital bladder exstrophy with uterine didelphys and prolapse of both uterine horns: a case report. Clin Imaging 2020;67:55-7. 
  13. Benz KS, Dunn E, Solaiyappan M, Maruf M, Kasprenski M, Jayman J, Michaud JE, Facciola J, DiCarlo H, Gearhart JP. Novel observations of female genital anatomy in classic bladder exstrophy using 3-dimensional magnetic resonance imaging reconstruction. J Urol 2018;200:882-9. 
  14. Baradaran N, Cervellione RM, Orosco R, Trock BJ, Mathews RI, Gearhart JP. Effect of failed initial closure on bladder growth in children with bladder exstrophy. J Urol 2011;186:1450-4. 
  15. Amalia TQ. [Clinical aspects, diagnosis and management of nephrotic syndrome in children]. 2018;1:81-8. Indonesian. 
  16. Becherucci F, Roperto RM, Materassi M, Romagnani P. Chronic kidney disease in children. Clin Kidney J 2016;9:583-91. 
  17. Zhang R, Knapp M, Suzuki K, Kajioka D, Schmidt JM, Winkler J, Yilmaz O, Pleschka M, Cao J, Kockum CC, Barker G, Holmdahl G, Beaman G, Keene D, Woolf AS, Cervellione RM, Cheng W, Wilkins S, Gearhart JP, Sirchia F, Di Grazia M, Ebert AK, Rosch W, Ellinger J, Jenetzky E, Zwink N, Feitz WF, Marcelis C, Schumacher J, Martinon-Torres F, Hibberd ML, Khor CC, Heilmann-Heimbach S, Barth S, Boyadjiev SA, Brusco A, Ludwig M, Newman W, Nordenskjold A, Yamada G, Odermatt B, Reutter H. ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development. Sci Rep 2017;7:42170. 
  18. Sharma A, Dakal TC, Ludwig M, Frohlich H, Mathur R, Reutter H. Towards a central role of ISL1 in the bladder exstrophy-epispadias complex (BEEC): computational characterization of genetic variants and structural modelling. Genes (Basel) 2018;9:609.