Defective IL-10 signalling and very-early-onset inflammatory bowel disease

Česká verzia

Authors: R. Szépeová ¹; Z. Havlíčeková ¹ ; P. Lietava ²; P. Bánovčin ml. ²; M. Jeseňák ¹
Authors place of work: Klinika detí a dorastu, Jesseniova lekárska fakulta v Martine, Univerzita Komenského v Bratislave, Univerzitná nemocnica Martin, Slovenská republika ¹; Interná klinika – gastroenterologická, Jesseniova lekárska fakulta v Martine, Univerzita Komenského v Bratislave, Univerzitná nemocnica Martin, Slovenská republika ²
Published in the journal: Gastroent Hepatol 2015; 69(6): 536-540
Category: Pediatric Gastroenterology and Hepatology: Case report
doi: https://doi.org/10.14735/amgh2015536

Summary

Children experiencing the onset of symptoms before the age of 2 have a specific position among patients with inflammatory bowel disorders. This is a heterogeneous group of diseases, often with a different etiopathogenesis, phenotype, treatment response and prognosis compared to diseases developing in older children or adults. Diseases that can mimic inflammatory bowel diseases, especially primary immunodeficiencies, should be excluded in this age group. Authors present a case report of a patient with very early onset of IBD unresponsive to conventional therapy, caused by point mutation of the IL10R gene.

Key words:
interleukin-10 – interleukin-10 receptor – infant – inflammatory bowel diseases

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manuscript met the ICMJE „uniform requirements“ for biomedical papers.

Submitted:
15. 10. 2015

Accepted:
6. 11. 2015

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