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Bladder exstrophy – epispadias complex with atrial septal defect: report of a rare case and review of literature

Nina Pereza ; Department of biology and medical genetics, School of medicine, University of Rijeka, Rijeka, Croatia
Neven Čače ; Department of cardiopulmology, Clinics for children's diseases, Clinical hospital centre Rijeka, Rijeka, Croatia
Harry Nikolić ; Department of pediatric surgery, Clinics for children's diseases, Clinical hospital centre Rijeka, Rijeka, Croatia

Puni tekst: hrvatski, pdf (1 MB) str. 180-186 preuzimanja: 1.628* citiraj
APA 6th Edition
Pereza, N., Čače, N. i Nikolić, H. (2009). Ekstrofija mokraćnog mjehura – epispadija kompleks s atrijskim septalnim defektom: prikaz rijetkog slučaja i pregled literature. Medicina Fluminensis, 45 (2), 180-186. Preuzeto s https://hrcak.srce.hr/38815
MLA 8th Edition
Pereza, Nina, et al. "Ekstrofija mokraćnog mjehura – epispadija kompleks s atrijskim septalnim defektom: prikaz rijetkog slučaja i pregled literature." Medicina Fluminensis, vol. 45, br. 2, 2009, str. 180-186. https://hrcak.srce.hr/38815. Citirano 21.10.2021.
Chicago 17th Edition
Pereza, Nina, Neven Čače i Harry Nikolić. "Ekstrofija mokraćnog mjehura – epispadija kompleks s atrijskim septalnim defektom: prikaz rijetkog slučaja i pregled literature." Medicina Fluminensis 45, br. 2 (2009): 180-186. https://hrcak.srce.hr/38815
Harvard
Pereza, N., Čače, N., i Nikolić, H. (2009). 'Ekstrofija mokraćnog mjehura – epispadija kompleks s atrijskim septalnim defektom: prikaz rijetkog slučaja i pregled literature', Medicina Fluminensis, 45(2), str. 180-186. Preuzeto s: https://hrcak.srce.hr/38815 (Datum pristupa: 21.10.2021.)
Vancouver
Pereza N, Čače N, Nikolić H. Ekstrofija mokraćnog mjehura – epispadija kompleks s atrijskim septalnim defektom: prikaz rijetkog slučaja i pregled literature. Medicina Fluminensis [Internet]. 2009 [pristupljeno 21.10.2021.];45(2):180-186. Dostupno na: https://hrcak.srce.hr/38815
IEEE
N. Pereza, N. Čače i H. Nikolić, "Ekstrofija mokraćnog mjehura – epispadija kompleks s atrijskim septalnim defektom: prikaz rijetkog slučaja i pregled literature", Medicina Fluminensis, vol.45, br. 2, str. 180-186, 2009. [Online]. Dostupno na: https://hrcak.srce.hr/38815. [Citirano: 21.10.2021.]

Sažetak
Aim: Bladder exstrophy-epispadias complex (BEEC) comprises a group of congenital midline defects which result from the failure of fusion of the entire infraumbilical abdominal wall including musculoskeletal structures of the pelvis, urogenital and gastrointestinal system and the spine. The aim of this paper is to present a case of a girl with bladder exstrophy and epispadias in
combination with atrial septal defect and to provide a review of recent discoveries in the etiology of bladder exstrophy-epispadias complex.
Case report: The girl was born with a defect in the anterior abdominal wall from umbilicus to genitalia with widely separated pubic symphyses, bladder exstrophy, low set umbilical cord which was inserted at the top of the bladder, epispadias and bifid clitoris. The urothelium of the bladder was everted through the midline defect. The child presented with no craniofacial dysmorphic features except for a mild diastasis of the sagittal suture. The cytogenetic analysis of peripheral blood lymphocytes from the patient showed a normal female karyotype (46,XX). After the complete clinical evaluation, Doppler echocardiography determined an atrial septal defect, but because of the minimal hemodynamic eff ect the therapy of the heart defect is currently not indicated.
Discussion: BEEC is usually considered an isolated defect, but anomalies outside the classically affected regions in the bladder exstrophy-epispadias complex, although extremely rare, have been described. To our knowledge this is the fifth described case of congenital heart defect and the second case of atrial septal defect in combination with bladder exstrophy and epispadias. New research shows that there might be rare forms of BEEC which include other congenital defects of the midline and that the presence of heart defects or orofacial clefts is not a random event but a pathogenetically related mechanism which might be under genetic control.

Ključne riječi
congenital heart defects; congenital midline defects; genetics; OEIS complex

Hrčak ID: 38815

URI
https://hrcak.srce.hr/38815

[hrvatski]

Posjeta: 3.378 *