Gastrointestinalne manifestacije cistične fibroze

master's thesis

• Title (english): Gastrointestinal manifestation of cystic fibrosis
• Author: Mirta Krpan
• Mentor: Duška Tješić-Drinković (mentor)
• Committee member: Dorian Tješić-Drinković (predsjednik povjerenstva)
• Committee member: Marija Jelušić (član povjerenstva)
• Committee member: Duška Tješić-Drinković (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Pediatrics); Zagreb
• Defense date and country: 2014-07-15, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Pediatrics

Abstract

Cistična fibroza je kronična bolest koju je dobro što ranije prepoznati i početi
kompleksno multidisciplinarno liječenje kako bi se postigla što bolja kvaliteta i duljina života
oboljelih. Posljedice kvantitativnih ili kvalitativnih poremećaja CFTR proteina odražavaju se
na više organskih sustava. Izrazito guste i žilave izlučevine nastaju, između ostalog, i u
gušterači te probavnom traktu što dovodi do brojnih manifestacija bolesti i posljedičnog
poremećaja nutritivnog statusa.
Klinička slika poremećaja probavnog trakta je varijabilna i okvirno se može podijeliti na
bolest gušterače, crijeva i hepatobilijarnog sustava. Oštećenje funkcije gušterače uzrokuje
nedostatak probavnih enzima i gubitak hranjivih tvari stolicom. Ovo je najčešća i praktički
uvijek prisutna gastroenterološka manifestacija cistične fibroze. Bolesnici gube ili nedovoljno
napreduju na tjelesnoj težini, čak i ako je prisutan adekvatan apetit. Bolest gušterače postoji i
u bolesnika s očuvanom egzokrinom funkcijom i očituje se promjenom pankreatičnog soka
koji je gušći i siromašan bikarbonatima, tj. kiseliji no normalno. Određeni broj bolesnika
razvit će i šećernu bolest pridruženu cističnoj fibrozi. Opstrukcija lumena tankog crijeva
prezentira se kao mekonijski ileus u novorođenčadi ili kao distalni intestinalni opstrukcijski
sindrom u kasnijoj životnoj dobi. Vrlo često je narušena funkcija i arhitektura jetre, no mali
broj bolesnika ima kliničke posljedice. S dobi raste broj i težina gastroenteroloških
manifestacija cistične fibroze, a jetrena insuficijencija drugi je po učestalosti uzrok smrti
oboljelih.
Jedan od glavnih ciljeva u liječenju bolesnika sa cističnom fibrozom je održavanje
adekvatnog rasta i razvoja što se postiže suplementacijom potrebnih tvari, nadoknadom
enzima gušterače i kontrolom drugih čimbenika koji pridonose pothranjenosti.

Abstract (english)

Cystic fibrosis is a chronic disease that requires early recognition and complex
multidisciplinary therapeutic procedures in order to accomplish satisfactory life quality of
patients. Repercussions of qualitative or quantitative modifications of CFTR protein reflect on
the entire human body. Formation of excretions with increased density and viscosity leads to
numerous forms of cystic fibrosis manifestations in the gastrointestinal tract and subsequent
changes of nutrition status together with damage to other systems.
Spectrum of clinical manifestations in gastrointestinal tract is broad and, in general, it
can be divided into pancreatic disease, bowel disease and hepatobiliary disease. The main
feature of pancreatic involvement is exocrine insufficiency and subsequent loss of nutrients
by defecation. Damage to the pancreas is the most common and almost always present
gastrointestinal manifestation of cystic fibrosis. Patients lose weight or fail to thrive even if
adequate appetite is notable. Pancreatic sufficient patients also have pancreatic disease that
causes secretion of abnormal pancreatic juice, viscous and with poor bicarbonate content. A
certain number of patients will also develop cystic fibrosis related diabetes. Bowel obstruction
in neonates is known as meconium ileus, while similar bowel obstruction later in life causes
distal intestinal obstruction syndrome. Function and architecture of the liver are often
disrupted but very few patients have clinical repercussions. The number and severity of
gastrointestinal manifestations increase with age and liver failure is the second leading cause
of death.
One of the main objectives of the treatment is to achieve adequate growth and
development using supplementation of necessary substances and digestive enzymes. Control
of other factors contributing to malnutrition is also required.

• Keywords: cistična fibroza; gastrointestinalne manifestacije; dijagnoza; terapija
• Keywords (english): cystic fibrosis; gastrointestinal manifestations; diagnosis; therapy
• Language: croatian
• URN:NBN: urn:nbn:hr:105:444168
• 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: 2015-10-12 09:55:34