Naslov
Very early onset inflammatory bowel disease: a complex disease pathogenesis with signs of autoinflammation - case report

Autori
Šestan, Mario ; Fustik, Stojka ; Kifer, Nastasia ; Arsov, Todor ; Jelušić, Marija

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Abstract Book ; The International Society of Systemic Auto-inflammatory Diseases Annual Meeting 2023 / N/A , N/A - , 2023

Skup
The International Society of Systemic Auto- inflammatory Diseases Annual Meeting 2023

Mjesto i datum
Toronto, Kanada, 15.05.2023. - 18.05.2023

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Very early onset inflammatory bowel disease ; Autoinflammation

Sažetak
Introduction: Very early onset inflammatory bowel disease (VEO-IBD) represents a group of inflammatory bowel diseases (IBD) that occur before the age of 6 years. Although genetics play a role in IBD at any age, monogenic etiology is more prevalent in patients with VEO-IBD and is a reflection of a complex disorder of immune regulation, often including features of autoinflammatory disease and primary immunodeficiencies. Objectives: We present an extremely rare example of a patient with VEO-IBD in the newborn age with an emphasis on a multidisciplinary approach in diagnosis and treatment. Methods: Information about the patient was obtained from the medical records. Results: The disease began with fever at the age of 3 weeks, and at the age of one month, frequent watery stools with admixture of fresh blood, along with pain during defecation, continued. At the age of 6 weeks, a minor shallow ulceration was noticed in the perianal region, which progressed into a large perianal fistula. From the laboratory analysis we pointed out high inflammatory parameters, thrombocytosis and anemia. Extensive microbiological work-up remained negative, and empirical combined antimicrobial therapy with broad-spectrum antibiotics without effect. Colonoscopically, the granulated mucous membrane of the colon was visualized without visible ulcerations and inflammatory changes. Due to the progression of the perianal fistula with purulent secretion, a colostomy was performed, and a biopsy of the sigmoid colon did not show typical histological features for IBD. Since autoinflammatory disease was suspected, a gene panel was sequenced, which detected a pathogenic variant resulting from a large deletion in exon 3 of the gene that codes for the beta subunit B of the interleukin 10 receptor (IL10RB). Additionally, a variant of uncertain meaning was found in exon 6 of the same gene, c.705C>A, which encodes the p.His265Gln protein. ILR10B mutations are associated with autosomal recessive VEO-IBD. With the use of glucocorticoids in pulse doses, regression of symptoms occurred, but when an attempt was made to reduce the dose, the symptoms reappeared. In accordance with the findings of the genetic analysis, anakinra therapy was also tried, but was discontinued due to the development of side effects. Treatment with hematopoietic stem cell transplantation is planned. Conclusion: Next-generation sequencing is an important diagnostic tool in children with IBD with severe disease phenotypes. VEO-IBD is a phenotypically and genetically different disease from IBD at a later age, which requires a different approach in diagnosis and treatment.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA