Atrezija žučnih vodova i sindrom polisplenije

master's thesis

• Title (english): Biliary atresia splenic malformation syndrome
• Author: Vedran Stevanović
• Mentor: Ruža Grizelj (mentor)
• Committee member: Jurica Vuković (predsjednik povjerenstva)
• Committee member: Marija Jelušić (član povjerenstva)
• Committee member: Ruža Grizelj (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Pediatrics); Zagreb
• Defense date and country: 2015-07-15, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Pediatrics

Abstract

Bilijarna atrezija je prirođena brzoprogredirajuća upalna obliteracijska bolest ekstrahepatalnih žučnih vodova. Nepoznate je etiologije i javlja se u novorođenačkoj dobi ili ranom dojenačkom razdoblju. Najčešći je uzrok kronične bolesti jetre i indikacija za transplantaciju jetre (Tx) u dječjoj dobi. Bilijarna atrezija je heterogena bolest u sklopu koje se razlikuju tri oblika. Prvi je „nesindromski“ ili „stečeni“ perinatalni oblik gdje je bilijarna atrezija izolirana anomalija. Drugi oblik bolesti je „sindromski“ embrionalni tj. fetalni oblik u okviru kojeg se uz bilijarnu atreziju nalaze i poremećaji simetrije visceralnih organa. U ovom obliku bolesti izdvajaju se bolesnici sa sindromom bilijarne atrezije udruženim s malformacijama slezene (BASM sindrom ili sindrom polisplenije). Treći oblik bolesti razlikuje se od nesindromskog i sindromskog oblika, a očituje se bilijarnom atrezijom u asocijaciji s ostalim kongenitalnim malformacijama, ali bez malformacija simetrije visceralnih organa. Bilijarna atrezija se klinički očituje žuticom (konjugirana hiperbilirubinemija) i akoličnim stolicama, a s vremenom i pojavom tamne mokraće, hepatomegalije i/ili splenomegalije u dojenčeta koje je do tada bilo dobrog općeg stanja. Analogni patološki proces u starije djece i odraslih ne postoji. Neliječeni bolesnici razvijaju cirozu jetre i umiru zbog jetrene insuficijencije do druge godine života. Intraoperativna kolangiografija je zlatni standard i definitivna pretraga u postavljanju dijagnoze. Hepatoportoenterostomija (HPE) je palijativni kirurški zahvat kojim se nastoji ponovno uspostaviti protok žuči u crijevo. Od presudne je važnosti dijagnozu postaviti što ranije, po mogućnosti prije 60. dana života, jer uspjeh operacije ovisi o dobi bolesnika u vrijeme zahvata. Iako operacija u većine bolesnika (40-60%) uspostavlja žučni protok, intrahepatalni upalni proces ne jenjava i s vremenom bolest progredira do bilijarne ciroze zbog čega u konačnici 70-80% bolesnika zahtijeva Tx. Ukupno preživljenje bolesnika s bilijarnom atrezijom danas iznosi 90% i većina ima normalnu kvalitetu života.

Abstract (english)

Biliary atresia is a congenital, idiopathic, progressive, inflammatory obliterative disease of the extrahepatic biliary tree that presents in the neonatal period and early infants. It is the most common cause of chronic liver disease and indication for liver transplantation (Tx) in children. Biliary atresia is a heterogeneous disease that can be grouped into three types. The first one is „nonsyndromic“ or „acquired“ perinatal type where biliary atresia is an isolated finding. The second type of the disease is „syndromic“ embryonal or foetal in which biliary atresia is associated with laterality malformations. This type includes biliary atresia splenic malformation syndrome (BASM syndrome or polysplenia syndrome). The third type presents itself as biliary atresia in association with other congenital malformations, but without laterality malformations. Initially healthy looking infants with biliary atresia will develop jaundice (conjugated hyperbilirubinemia) with acholic stools and with time dark urine, hepatomegaly and/or splenomegaly can also be found. No analogous pathological process exists in older children or adults. If untreated, progressive liver cirrhosis leads to death by the age of two years. Intraoperative cholangiography is the gold standard in the diagnosis of biliary atresia. Hepatoportoenterostomy (HPE) is a palliative surgical procedure done to establish bile drainage into the small intestine. It is essential to set a diagnosis as early as possible, preferably before the 60th day of life, because younger age at the time of the operation is associated with better outcomes. Although bile flow is established by HPE in most of the patients (40-60%), intrahepatal inflammatory process does not withdraw and with time leads to biliary cirrhosis because of which 70-80% of patients require Tx. At present, 90% of patients with biliary atresia survive and have normal quality of life.

• Keywords: atrezija žučnih vodova; sindrom polisplenije; hepatoportoenterostomija; kolangiografija; transplantacija jetre
• Keywords (english): biliary atresia; polyplenia syndrome; hepatoportoenterostomy; cholangiography; liver transplantation
• Language: croatian
• URN:NBN: urn:nbn:hr:105:280114
• 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: 2016-08-16 10:01:50