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Medicina
Croatian Medical Association - Rijeka branch
ISSN: 0025-7729
Vol. 45, No. 2, 2009, pp. 180-186
Bioline Code: me09024
Full paper language: Croatian
Document type: Research Article
Document available free of charge

Medicina, Vol. 45, No. 2, 2009, pp. 180-186

 hr Ekstrofija mokraćnog mjehura – epispadija kompleks s atrijskim septalnim defektom: prikaz rijetkog slučaja i pregled literature
Pereza, Nina; Čače, Neven & Nikolić, Harry


Cilj: Ekstrofija mokraćnog mjehura - epispadija kompleks obuhvaća prirođene anomalije središnje linije tijela koje nastaju zbog nezatvaranja infraumbilikalnog dijela prednje trbušne stijenke uključivši zdjelicu, urogenitalni i gastrointestinalni sustav te kralježnicu. Cilj ovog rada je prikaz djevojčice sa ekstrofijom mokraćnog mjehura i epispadijom u kombinaciji sa atrijskim septalnim defektom i pregled novih spoznaja u etiologiji ekstrofija mokraćnog mjehura - epispadija kompleksa.
Prikaz slučaja: Djevojčica je rođena sa rascjepom donjeg dijela trbušne stijenke od pupka do spolovila sa dijastazom simfiza, ekstrofijom mokraćnog mjehura, nisko postavljenom pupkovinom koja izlazi iz vrha mjehura i dvosmislenim spolovilom zbog prisutne epispadije i rascjepa klitorisa. Sluznica mokraćnog mjehura bila je okrenuta prema van, a otvori uretera prohodni. U djeteta nije prisutna kraniofacijalna dismorfija osim blago razmaknute sagitalne suture. Klasičnom citogenetičkom analizom limfocita periferne krvi utvrđen je uredan ženski kariotip (46,XX). Ehokardiografijom s Dopplerom otkriven je atrijski septalni defekt, no zbog minimalnog hemodinamskog učinka terapija srčane mane za sada nije potrebna.
Rasprava: Iako se EME kompleks obično smatra izoliranim poremećajem, anomalije izvan klasično zahvaćenih regija u sklopu ekstrofija mokraćnog mjehura - epispadija kompleksa su opisane, no iznimno su rijetke. Prema našim saznanjima ovo je peti opisani slučaj prisutnosti prirođene srčane mane, odnosno drugi slučaj prisutnosti atrijskog septalnog defekta u kombinaciji sa ekstrofijom mokraćnog mjehura i epispadijom. Novija istraživanja i rijetki klinički slučajevi pokazuju kako postoje vrlo rijetki oblici navedenog kompleksa koji uključuju ostale poremećaje razvoja središnjeg dijela tijela i da istovremena pojava srčanih mana ili rascjepa orofacijalne regije nije slučajna pojava već patogenetski povezan mehanizam koji je moguće genetički reguliran.


genetika; OEIS kompleks; prirođene anomalije središnje linije; prirođene srčane mane

 
 en Bladder Exstrophy – Epispadias Complex With Atrial Septal Defect: Report of a Rare Case and Review of Literature
Pereza, Nina; Čače, Neven & Nikolić, Harry

Abstract

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.

Keywords
congenital heart defects; congenital midline defects; genetics; OEIS complex

 
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