Non-syndromic Hirschsprung's disease as a result of a RET gene variant.
| Autor: | Gietz R; Pediatric General Surgery and Urology Department. Hospital Italiano de Buenos Aires. Buenos Aires, Argentina., Armando R; Genetics Unit, Pediatrics Department. Hospital Italiano de Buenos Aires. Buenos Aires, Argentina., Lobos P; Pediatric General Surgery and Urology Department. Hospital Italiano de Buenos Aires. Buenos Aires, Argentina., Liberto D; Pediatric General Surgery and Urology Department. Hospital Italiano de Buenos Aires. Buenos Aires, Argentina. |
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| Jazyk: | English; Spanish; Castilian |
| Zdroj: | Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica [Cir Pediatr] 2024 Apr 01; Vol. 37 (2), pp. 89-92. Date of Electronic Publication: 2024 Apr 01. |
| DOI: | 10.54847/cp.2024.02.19 |
| Abstrakt: | Introduction: Hirschsprung's disease (HD) is characterized by the absence of ganglion cells in the submucosal and myenteric plexuses of the colon as a result of disorders in the migration and differentiation of enteric neural crest cells during embryogenesis. It is a cross-factor condition, with more than 11 genes identified in its pathogenesis, including the RET proto-onco gene. Case Reports: We present the case of two siblings with total colon HD where a potentially pathogenic variant of the RET gene was found. Their father also had this condition. Discussion: Prenatal diagnosis through genetic testing allows for informed decisions and care planning for the newborn, thus reducing delayed diagnosis and treatment, and minimizing long-term complications. Mutations such as the RET gene variant highlight the importance of the genetic approach in understanding and managing HD. |
| Databáze: | MEDLINE |
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