Sinkrona transplantacija jetre i srca kod pacijenta s hereditarnom transtiretinskom amiloidozom - prikaz slučaja

professional thesis

• Title (english): Synchronous liver and heart transplantation in a patient with hereditary transthyretin amyloidosis - a case report
• Author: Iva Martina Strajher
• Mentor: Hrvoje Silovski (mentor)
• Granter: University of Zagreb; School of Medicine; Zagreb
• Defense date and country: 2023-11-15, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Surgery

Abstract

Amiloidoza je termin koji obuhvaća skupinu bolesti koju karakterizira ekstracelularno nakupljanje patološkog proteina u raznim organskim sustavima. Transtiretinska amiloidoza je posebno zanimljiva abdominalnim kirurzima zbog mogućnosti liječenja iste transplantacijom jetre.
Transtiretinska amiloidoza (ATTR) nastaje zbog pogreške u sintezi i odlaganju transtiretina, proteina koji se sintetizira gotovo isključivo u jetri. ATTR se može podijeliti u još dvije skupine: wild type ATTR (wATTR) i hereditarna ATTR (hATTR). wATTR je sporadična bolest koja se pojavljuje u starijoj životnoj dobi, češće kod muškaraca. hATTR nastaje kao posljedica mutacije gena za TTR, a nasljeđuje se autosomno dominantno, i očituje se u mlađoj dobi nego wATTR. ATTR najčešće uzrokuje neuropatiju i restriktivnu kardiomiopatiju koja vodi u kardijalnu dekompenzaciju. Bolesnici s wATTR generalno imaju bolest ograničenu na srce, no pošto se njima bolest u pravilu dijagnosticira u sedmom ili osmom desetljeću života, nisu kandidati za transplantaciju srca. Bolesnici s hATTR su uglavnom mlađi ljudi koji mogu biti kandidati za transplantaciju srca. Pošto se mutirani gen sintetizira u jetri, potrebno je kod takvih bolesnika razmotriti i kombiniranu transplantaciju jetre i srca.
Prva sinkrona transplantacija srca i jetre izvedena je 1984. na 6-godišnjoj djevojčici s dijagnozom obiteljske hiperkolesterolemije. Od tada se sinkrone transplantacije više organa izvode u svijetu, ali i dalje rijetko i u strogo specijaliziranim centrima, što potvrđuje podatak da se u SAD-u godišnje izvede manje od 50 sinkronih transplantacija jetre i srca.
Ovaj rad sadrži sažeti prikaz današnjih saznanja o transtiretinskoj amiloidozi i načinima liječenja, te prikaz slučaja bolesnika kod kojeg je prvi put u Hrvatskoj učinjena takva sinkrona transplantacija jetre i srca zbog hATTR.

Abstract (english)

Amyloidosis is a term that encompasses a group of diseases characterized by the extracellular accumulation of a pathological protein in various organ systems. Transthyretin amyloidosis is of particular interest to abdominal surgeons because of the possibility of treating it with a liver transplantation. Transthyretin amyloidosis (ATTR) is caused by an error in the synthesis and deposition of transthyretin, a protein that is synthesized almost exclusively in the liver. ATTR can be further divided into two groups: wild type ATTR (wATTR) and hereditary ATTR (hATTR). wATTR is a sporadic disease that manifests in old age, more often in men. hATTR arises as a result of a mutation of the TTR gene, and is inherited in an autosomal dominant manner, and manifests itself at a younger age than wATTR. ATTR most often causes neuropathy and restrictive cardiomyopathy leading to cardiac decompensation. Patients with wATTR generally have disease limited to the heart, but since the disease is usually diagnosed in their seventh or eighth decade of life, they are not candidates for heart transplantation. Patients with hATTR are mostly younger patients who may be candidates for heart transplantation. Since the mutated gene is synthesized in the liver, it is necessary to consider a combined liver and heart transplant in such patients. The first synchronous heart and liver transplant was performed in 1984. on a 6-year-old girl diagnosed with familial hypercholesterolemia. Since then, synchronous transplants of multiple organs have been performed around the world, but still rarely and in strictly specialized centers, which is confirmed by the fact that in USA annualy less than 50 synchronous liver and heart transplantation are performed. This paper contains a summary of today's knowledge about transthyretin amyloidosis and methods of treatment, as well as a case report of a patient who underwent such synchronous liver and heart transplantation for hATTR for the first time in Croatia.

• Keywords: Amiloidoza; Transplantacija jetre; Kardiomiopatija; Jetra; Transplantacija srca
• Keywords (english): Amyloidosis; Liver Transplantation; Cardiomyopathy; Liver; Heart Transplantation
• Language: croatian
• URN:NBN: urn:nbn:hr:105:131446
• Study programme: Title: Abdominal surgery; Study programme type: university; Study level: postgraduate specialist; Academic / professional title: sveučilišni/a magistar/magistra abdominalne kirurgije (sveučilišni/a magistar/magistra abdominalne kirurgije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2024-02-08 09:32:25