Cloacal exstrophy

Classification according to ICD-10
Q64.1	Urinary bladder exstrophy
ICD-10 online (WHO version 2019)

The cloaca exstrophy (from cloaca , common body outlet for the digestive, sexual and excretory organs, ancient Greek ἐκ ek 'outward, outward' and ancient Greek στροφή strophē 'twist') is a rare congenital malformation from the so-called bladder exstrophy-epispadia complex , with A combination of a common opening for the rectum , vagina and urethra (cloaca) and malformation of the lower abdominal wall with this cloaca lying open (as in bladder exstrophy ) and an omphalocele .

Synonyms are: OEIS complex , acronym for O mphalozele , E kstrophie, I mperforate anus and S Pinale defects , Vesikointestinale fissure Kloakenexstrophie, Kloakenektopie.

distribution

The frequency of cloacal malformations is given as 1 in 20,000, cloacal exstrophy is said to be much less common with 1 in 250,000.

pathology

It is an early embryonic inhibition malformation of the mesoderm with impaired separation of the embryo from the yolk sac . The urogenital septum , which divides the embryonic internal cloaca into the urogenital sinus and rectum , is not properly positioned. In addition, the lower abdominal wall and the symphysis symphysis develop improperly , so that the ventral abdominal wall, the posterior wall of the urinary bladder and the anterior wall of the rectum are missing.

Clinical manifestations

Clinical criteria are:

In the bladder exstrophy caudally adjacent to the omphalocele, there is a median strip of intestinal mucosa with fistulas , the urinary bladder is divided into a right and a left half.

The colon is only rudimentary,

the upper sections of the intestine to the lower ileum are normal

Often there is a double appendix of the vermiform appendix

In addition, there are usually genital malformations such as cryptorchidism , duplication of the penis or clitoris and vagina

There are also diastases of the pubic symphysis , malformations of the upper urinary tract and the lower sacral spine such as meningomyelocele , tethered cord

diagnosis

The diagnosis is based on clinical findings after birth. The diagnosis can already be suspected intrauterine by means of fine ultrasound .

therapy

Treatment should be given in a specialized center.

literature

TM Phillips, AH Salmasi, A. Stec, TE Novak, JP Gearhart, RI Mathews: Urological outcomes in the omphalocele exstrophy imperforate anus spinal defects (OEIS) complex: experience with 80 patients. In: Journal of pediatric urology. Vol. 9, No. 3, June 2013, pp. 353-358, doi: 10.1016 / j.jpurol.2012.04.017 , PMID 22640865 .
D. Sawaya, JP Gerhart: Gastrointestinal reconstruction and outcomes for patients with the OEIS complex. In: Seminars in pediatric surgery. Vol. 20, No. 2, May 2011, pp. 123-125, doi: 10.1053 / j.sempedsurg.2010.12.008 , PMID 21453858 (review).
A.-K. Ebert, H. Reutter a. a .: The Exstrophy-epispadias complex. In: Orphanet Journal of Rare Diseases. Vol. 4, 2009, p. 23, doi: 10.1186 / 1750-1172-4-23 [1]

Individual evidence

↑ Bladder exstrophy-epispadias complex. In: Orphanet (Rare Disease Database).
↑ ^a ^b Cloak exstrophy. In: Orphanet (Rare Disease Database).
↑ OEIS COMPLEX. In: Online Mendelian Inheritance in Man . (English)
↑ E. Schwalbe: The morphology of the deformities of humans and animals. Vol. III, Fischer Jena, 1909, p. 78
^ H. Swan, SP Christensen: Extrophy of the cloaca . In: Pediatrics Vol. 12, 1953, p. 645
↑ D. Williams: Urology in childhood. In: Encyclopedia of Urology Vol. XV, Springer 1958, p. 103
^ Emedicine, Medscape
↑ Kloakenekstrophie.org
↑ ^a ^b Marcel Bettex (ed.), Max Grob (introduction), D. Berger (arrangement), N. Genton, M. Stockmann: Pediatric Surgery. Diagnostics, indication, therapy, prognosis. 2nd, revised edition, Thieme, Stuttgart / New York 1982, p. 8.145, ISBN 3-13-338102-4
↑ Entry on cloacal exstrophy in the Flexikon , a Wiki of the DocCheck company

↑ G. Tonni, G. Grisolia, M. Bonasoni, M. Panteghini, I. Vito, C. De Felice: Prenatal diagnosis of OEIS (omphalocele, bladder exstrophy, imperforate anus, clubfeet) variant associated with increased nuchal translucency and OEIS complex with ambiguous genitalia associated with corrected transposition of the great arteries: case series and review of the literature. In: Archives of gynecology and obstetrics. Vol. 284, No. 2, August 2011, pp. 261-269, doi: 10.1007 / s00404-011-1900-3 , PMID 21475965 (review).

Web links

ekstrophie (self-help group bladder exstrophy / Epispadie eV)

Kloakenekstrophie (subgroup of the self-help group Bladenekstrophie / Epispadie eV)

[1] Bladder exstrophy-epispadias complex. In: Orphanet (Rare Disease Database).

[Orpha-2] Cloak exstrophy. In: Orphanet (Rare Disease Database).

[3] OEIS COMPLEX. In: Online Mendelian Inheritance in Man . (English)

[4] E. Schwalbe: The morphology of the deformities of humans and animals. Vol. III, Fischer Jena, 1909, p. 78

[5] H. Swan, SP Christensen: Extrophy of the cloaca . In: Pediatrics Vol. 12, 1953, p. 645

[6] D. Williams: Urology in childhood. In: Encyclopedia of Urology Vol. XV, Springer 1958, p. 103

[emed-7] Emedicine, Medscape

[8] Kloakenekstrophie.org

[Bettex-9] Marcel Bettex (ed.), Max Grob (introduction), D. Berger (arrangement), N. Genton, M. Stockmann: Pediatric Surgery. Diagnostics, indication, therapy, prognosis. 2nd, revised edition, Thieme, Stuttgart / New York 1982, p. 8.145, ISBN 3-13-338102-4

[flexikon-10] Entry on cloacal exstrophy in the Flexikon , a Wiki of the DocCheck company

[11] G. Tonni, G. Grisolia, M. Bonasoni, M. Panteghini, I. Vito, C. De Felice: Prenatal diagnosis of OEIS (omphalocele, bladder exstrophy, imperforate anus, clubfeet) variant associated with increased nuchal translucency and OEIS complex with ambiguous genitalia associated with corrected transposition of the great arteries: case series and review of the literature. In: Archives of gynecology and obstetrics. Vol. 284, No. 2, August 2011, pp. 261-269, doi: 10.1007 / s00404-011-1900-3 , PMID 21475965 (review).