Title The complexity of malnutrition in cystic fibrosis Title (croatian) Složenost pothranjenosti u cističnoj fibrozi Author Romana Prskalo Mentor Duška Tješić-Drinković (mentor)Committee member Duška Tješić-Drinković (predsjednik povjerenstva)Committee member Dorian Tješić-Drinković (član povjerenstva)Committee member Marija Jelušić (član povjerenstva)Granter University of Zagreb Defense date and country 2017-07-14, Croatia Scientific / art field, BIOMEDICINE AND HEALTHCARE Scientific / art field, BIOMEDICINE AND HEALTHCARE Abstract Cystic Fibrosis (CF) is the most common life-limiting genetic disease of Caucasian populations. It is a disease inherited in an autosomal recessive fashion and the defect lies in the gene encoding the cystic fibrosis transmembrane regulator (CFTR) - a chloride channel regulating ion transport across the apical surface of secretory epithelial cells. The main clinical manifestations are pancreatic insufficiency and progressive obstructive pulmonary and gastrointestinal disease. Malnutrition in patients with CF is a common clinical feature in patients of all ages, and a common cause of failure to thrive and growth failure in both infancy and childhood. Although it is not as common of a problem as it was in the past, it still contributes to increased morbidity and premature death in patients with CF. Malnutrition in CF is a result of the complex interaction of various interrelated and unrelated factors, which lead to increased energy requirements, increased energy losses, and a decreased caloric intake- resulting in a negative energy balance. The organ dysfunction caused by the systemic manifestations of the disease also contribute to malnutrition. Exocrine pancreatic insufficiency is a major cause of maldigestion and malabsorption. It can be treated with pancreatic enzyme replacement therapy (PERT), but even with optimal therapy, it does not always result in optimal nutrition and growth. This indicates that pancreatic insufficiency does not account for all of the nutritional issues in CF, as was once thought, pointing to other factors such as progressive lung disease, gastrointestinal disease, psychosocial issues and comorbid conditions, among others, that may contribute and influence the development of malnutrition in patients with CF. The challenge with malnutrition is that there is an absence of a specific, etiological treatment for patients with CF and in the meantime, there exists only enzyme replacement therapy and supportive treatment, which may help reduce energy losses, but do not eliminate the problem. Specific etiological and genetic therapy is still far in the future and, for now, the solution is to vigilantly monitor nutritional status and growth and follow patients on a lifelong basis.
Abstract (croatian) Cistična fibroza (CF) najčešća je nasljedna bolest u bjelačkoj populaciji koja bitno skraćuje životni vijek. Nasljeđuje se autosomno recesivno, a posljedica je mutacije gena CFTR (od engl. cystic fibrosis transmembrane regulator ili hrv. transmembranski regulator povodljivosti za cističnu fibrozu). CFTR funkcionira kao kloridni kanal koji regulira prijenos iona preko apikalne površine sekretornih epitelnih stanica. Simptomi i težina bolesti značajno variraju od bolesnika do bolesnika, no osnovne kliničke manifestacije CF su kronična plućna bolest i bolest probavnog sustava. Malapsorpcijski sindrom prisutan je u svim dobnim skupinama i glavni je uzrok slabijeg napredovanja u dječjoj dobi. Malapsorpcija nije toliko veliki terapijski problem kao u prošlosti, no još uvijek značajno pridonosi morbiditetu i preuranjenoj smrti bolesnika s CF. Pothranjenost u CF rezultat je složene interakcije različitih povezanih i nepovezanih čimbenika, koji zajedno dovode do povećanih energetskih potreba, povećanih gubitaka energije i smanjenog unosa kalorija s posljedičnom negativnom energetskom ravnotežom. Disfunkcija organa uzrokovana sustavnim pojavama bolesti također pridonosi neishranjenosti. Insuficijencija egzokrine gušterače osnovni je uzrok poremećene digestije i malapsorpcije. Može se liječiti nadoknadom enzima, no čak ni optimalna supstitucijska terapija ne dovodi uvijek do optimalne kontrole malapsorpcije. To upozorava na to da insuficijencija gušterače nije jedini uzrok malnutricije u CF, kao što se nekoć mislilo, ukazujući na druge dodatne potencijalne čimbenike koji mogu pridonijeti i utjecati na razvoj pothranjenosti u bolesnika s CF. To su između ostalog progresivna plućna bolest, gastrointestinalna bolest, psihosocijalne okolnosti ili simultana prisutnost jedne ili dvije kronične bolesti. Izazov u liječenju malnutricije u CF leži u nedostatku specifične, etiološke terapije za bolesnike oboljele od CF. Trenutno je osnovno liječenje supstitucijska terapija pankreasnim enzimima i potporne mjere koje pomažu kontroli gubitaka energije, ali često ne rješavaju problem uhranjenosti u potpunosti. Specifična etiološka i genetska terapija stvar je budućnosti, a za sada je rješenje da se pažljivo prati nutritivni status i rast pacijenta, i to doživotno.
Keywords
cystic fibrosis
malnutrition
Keywords (croatian)
cistična fibroza
neishranjenost
Language english URN:NBN urn:nbn:hr:105:459629 Study programme Title: Medicine (in English language) Type of resource Text File origin Born digital Access conditions Open access Terms of use Created on 2018-04-18 07:56:34
