Diferencijalna dijagnoza bolesti koje se prezentiraju kao kronična upalna bolest crijeva u ranoj dječjoj dobi

master's thesis

• Title (english): Differential diagnosis of diseases which present as chronic inflammatory bowel disease in early childhood
• Author: Matija Horvat
• Mentor: Irena Senečić-Čala (mentor)
• Committee member: Jurica Vuković (predsjednik povjerenstva)
• Committee member: Marija Jelušić (član povjerenstva)
• Committee member: Irena Senečić-Čala (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Pediatrics); Zagreb
• Defense date and country: 2021-07-16, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Pediatrics

Abstract

Kronična upalna bolest crijeva uključuje Crohnovu bolest, ulcerozni kolitis i nerazvrstani kolitis. U 20 – 25% slučajeva bolest se dijagnosticira prije navršene 18 godine života. Dijagnostički su kriteriji za postavljanje dijagnoze kronične upalne bolesti jasno definirani, ali niti jedan nije isključivo specifičan. Zbog toga diferencijalna dijagnoza uključuje široki spektar upalnih bolesti koje mogu oponašati Crohnovu bolest ili ulcerozni kolitis. Bolesti koje se prezentiraju kao IBD možemo podijeliti na monogenske, infektivne ili neinfektivne bolesti. Monogenske bolesti nastaju kao posljedica mutacija u DNK te slijede Mendelove zakone nasljeđivanja. Danas se smatra da je oko 163 genskih lokusa povezano s kroničnom upalnom bolešću crijeva. S obzirom na moguće mehanizme funkcioniranja, mogu biti podijeljene na: defekti epitelne barijere, neutropenija i defekti u fagocitnom ubijanju bakterija, hiper- i autoimuni poremećaji, poremećaji koji utječu na odabir i aktivaciju limfocita T i B, poremećaji imunološke disregulacije. Infektivne bolesti čine veliki postotak gastrointestinalnih bolesti kod djece. Infekcije koje se prezentiraju sa simptomima nalik onima kod upalne bolesti crijeva su intestinalna tuberkuloza, amebijaza, lamblijaza, infekcije uzrokovane bakterijama Clostridium difficile, Campylobacter, Salmonella, Yersinia kao i citomegalovirusom. Bitno nam je otkriti uzroke tih simptoma i znakova jer se algoritmi liječenja kao i sama prognoza razlikuju. Posljednju skupinu bolesti čine neinfektivne bolesti. U ranoj dječjoj dobi česta je alergija na kravlje mlijeko kao i intolerancije na ugljikohidrate. Moguća je i pojava celijakije. Za odgovarajući dijagnozu bitna nam je detaljna anamneza i fizikalni pregled. Dobivene nalaze nadopunjujemo laboratorijskim, patohistološkim i slikovnim pretragama te specifičnim pretragama za bolesti na koje smo postavili sumnju.

Abstract (english)

Chronic inflammatory bowel disease includes Crohn’s disease, ulcerative colitis, and unclassified colitis. In 20-25% of cases, the disease is diagnosed before the age of 18. Diagnostic criteria for diagnosing chronic diseases are usually defined, but none are exclusively specific. Because of that differential diagnosis includes a wide range of inflammatory diseases that can mimic Crohn's disease or ulcerative colitis. Diseases presented as IBD can be divided into monogenic, infectious or non-infectious diseases. Monogenic diseases arise as a result of a mutation in DNA that follows Mendel’s laws of inheritance. Today, about 163 gene loci are thought to be associated with chronic inflammatory bowel disease. Given the possible mechanisms of functioning, they can be divided into: epithelial barrier defects, neutropenia and defects in phagocytic bacterial killing, hyper- and autoimmune disorders, disorders affecting the selection and activation of T and B lymphocytes, disorders of immune dysregulation. Infectious diseases make up a large percentage of gastrointestinal diseases in children. Infections that present with symptoms similar to those of inflammatory bowel disease are intestinal tuberculosis, amoebiasis, lambliasis, infections caused by Clostridium difficile bacteria, Campylobacter, Salmonella, Yersinia as well as cytomegalovirus. It is important for us to discover the causes of these symptoms and signs because the treatment algorithms as well as the prognosis itself differ. The last group of diseases consists of non-infectious diseases. In early childhood, allergy to cow's milk is common, as well as intolerance to carbohydrate. Celiac disease is also possible. A detailed anamnesis and physical examination are important for a proper diagnosis. The findings were supplemented by laboratory, pathohistological and imaging tests and specific tests for diseases that we suspected.

• Keywords: kronična upalna bolest crijeva; Crohnova bolest; ulcerozni kolitis; diferencijalna dijagnoza; monogenske bolesti; infektivne bolesti; neinfektivne bolesti
• Keywords (english): chronic inflammatory bowel disease; Crohn's disease; ulcerative colitis; differential diagnosis; monogenic diseases; infectious diseases; non-infectious diseases
• Language: croatian
• URN:NBN: urn:nbn:hr:105:769631
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2022-02-09 10:51:50