Atresia multiplex congenita syndrome

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Classification according to ICD-10
Q43.8 Other specified congenital malformations of the bowel
Q89.8 Atresia multiplex congenita syndrome
ICD-10 online (WHO version 2019)

The Atresia multiplex congenita syndrome is a rare form of Darmatresie where multiple atresia in the gastrointestinal tract are present. Usually the gastric outlet ( pyloric atresia ) and the small intestine ( small intestine atresia ) are affected, rarely also the large intestine ( colon atresia ) or the rectum .

Synonyms are: multiple intestinal atresia; Polyatresia, intestinal; Latin Atresia multiplex congenita ; English Gastrointestinal defects and immunodeficiency syndrome

The first description probably comes from the year 1957 by B. Gumbel.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .

root cause

The disease are mutations in TTC7A - gene on chromosome 2 locus p21 based encoding the TPR domain-containing protein TTC7A.

Apparently, the genetic defect also plays a role in the immune system .

Clinical manifestations

Clinical criteria are:

diagnosis

In the X-ray image intraluminal calcifications can be detected. Already in utero can in sonography indicative changes are found.

A classification can be made as described under intestinal atresia # classification .

therapy

The treatment is performed surgically. Depending on the extent of the lesions, there is a risk of short bowel syndrome .

forecast

The prognosis is unfavorable; many of those affected usually die in the first few weeks of life.

literature

  • T. Githu, AC Merrow, JK Lee, AP Garrison, RL Brown: Fetal MRI of hereditary multiple intestinal atresia with postnatal correlation. In: Pediatric radiology. Volume 44, Number 3, March 2014, pp. 349-354, doi: 10.1007 / s00247-013-2801-3 , PMID 24096803 .
  • R. Balanescu, L. Topor, I. Stoica, A. Moga: Associated type IIIB and type IV multiple intestinal atresia in a pediatric patient. In: Chirurgia. Volume 108, Number 3, 2013 May-Jun, pp. 407-410, PMID 23790793 . [1]

Individual evidence

  1. ↑ a b c Multiple intestinal atresia. In: Orphanet (Rare Disease Database).
  2. ↑ a b c Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  3. ^ B. Gumbel: [A case of congenital multiple intestinal atresia, associated with a pancreatic deformity]. In: Monthly for Pediatrics. Volume 105, Number 10, October 1957, pp. 389-392, PMID 13517102 .
  4. ↑ Gastrointestinal defects and immunodeficiency syndrome.  In: Online Mendelian Inheritance in Man . (English)
  5. ^ I. Fernandez, N. Patey, V. Marchand, M. Birlea, B. Maranda, E. Haddad, H. Decaluwe, F. Le Deist: Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort. In: Medicine. Volume 93, number 29, December 2014, p. E327, doi: 10.1097 / MD.0000000000000327 , PMID 25546680 , PMC 4602622 (free full text).
  6. ↑ MM Chou, JJ Tseng, ES Ho, HC Peng: In utero sonographic findings in a fetus with a hereditary multiple intestinal atresia. In: Zhonghua yi xue za zhi = Chinese medical journal; Free China ed. Volume 65, Number 3, March 2002, pp. 131-134, PMID 12051458 .
  7. ↑ T. Hasegawa, J. Sumimura, K. Nose, T. Sasaki, Y. Miki, T. Dezawa: Congenital multiple intestinal atresia successfully treated with multiple anastomoses in a premature neonate: report of a case. In: Surgery today. Volume 26, Number 10, 1996, pp. 849-851, PMID 8897693 (review).