Mitchell-Riley Syndrome
Classification according to ICD-10 | |
---|---|
Q45.8 | Other specified congenital malformations of the digestive system |
ICD-10 online (WHO version 2019) |
The Mitchell-Riley syndrome is a very rare congenital malformation with an underdevelopment of the pancreas and the gallbladder along with a Darmatresie .
Synonym : Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
The name refers to the main authors of the first description from 2004 by the Canadian pediatricians J. Mitchell and P. Riley and colleagues.
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .
root cause
The disease are mutations in RFX6 - gene on chromosome 6 locus Q22.1 based encoding the regulatory factor RFX6, which plays an important role in the development of the intestine, the gallbladder and the beta cells (β-cells).
Clinical manifestations
Clinical criteria are:
- Intrauterine growth retardation
- Manifestation at the latest in the newborn or toddler
- Diabetes mellitus of the newborn
- Intestinal atresia at the level of the duodenum or jejunum or pancreas annulare
- missing or too small gallbladder
- Failure to thrive , malabsorption
- Hyperbilirubinemia
- Acholic chair
Differential diagnosis
The very similar Martínez-Frías syndrome does not have neonatal diabetes.
The extent to which it is possible to differentiate between two separate clinical pictures is not clear.
literature
- MA Kambal, DA Al-Harbi, AR Al-Sunaid, MS Al-Atawi: Mitchell-Riley Syndrome Due to a Novel Mutation in RFX6. In: Frontiers in pediatrics. Volume 7, 2019, p. 243, doi: 10.3389 / fped.2019.00243 , PMID 31275908 , PMC 6591266 (free full text).
- M. Zegre Amorim, JA Houghton, S. Carmo, I. Salva, A. Pita, L. Pereira-da-Silva: Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Genes. In: Case reports in genetics. Volume 2015, 2015, p. 937201, doi: 10.1155 / 2015/937201 , PMID 26770845 , PMC 4681791 (free full text).
Web links
Individual evidence
- ↑ a b c Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome. In: Orphanet (Rare Disease Database).
- ↑ J. Mitchell, Z. Punthakee, B. Lo, C. Bernard, K. Chong, C. Newman, L. Cartier, V. Desilets, E. Cutz, IL Hansen, P. Riley, C. Polychronakos: Neonatal diabetes , with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome. In: Diabetologia. Volume 47, Number 12, December 2004
- ↑ R. Spiegel, A. Dobbie et al. a .: Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations. In: American Journal of Medical Genetics Part A. 155, 2011, p. 2821, doi: 10.1002 / ajmg.a.34251 .
- ^ Mitchell-Riley syndrome. In: Online Mendelian Inheritance in Man . (English)
- ↑ L. Cruz, RE Schnur, EM Post, H. Bodagala, R. Ahmed, C. Smith, LB Lulis, GE Stahl, A. Kushnir: Clinical and genetic complexity of Mitchell-Riley / Martinez-Frias syndrome. In: Journal of perinatology: official journal of the California Perinatal Association. Volume 34, number 12, December 2014, pp. 948-950, doi: 10.1038 / jp.2014.162 , PMID 25421130 .