Fabryjeva bolest - smjernice za dijagnozu i liječenje odraslih bolesnika

Professional paper - Professional paper

• Title (english): Fabry disease - guidelines for diagnosis and management of adult patients
• Author: Marijan Merkler
• Author: Ivan Pećin
• Author: Iveta Šimić
• Author: Diana Muačević-Katanec
• Author: Nediljko Šućur
• Author: Željko Reiner
• Author's institution: University of Zagreb; School of Medicine
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences

Abstract (english)

Early diagnosis and management of patients with Fabry disease (FD) requires a multidisciplinary approach of several different experts. The aim of this document is to provide health care professionals with guidelines for management of adult patients with Fabry disease. These guidelines were produced by the staff of the Division of Metabolic Diseases, Department of Internal Medicine, University Hospital Center Zagreb, which is the Referral Expert Center for Rare and Metabolic Diseases of the Ministry of Health, Republic of Croatia. The first guidelines ever published in Croatia concerning a rare metabolic disease are presented. This document provides a short summary on Fabry disease, how to diagnose Fabry disease, management of patients with this disease, follow-up of the patients, and gives recommendations on therapy and genetic testing.

Abstract (croatian)

Rano postavljanje dijagnoze i liječenje bolesnika s Fabryjevom bolesti zahtijeva multidisciplinarni pristup niza stručnjaka. Cilj je ovog dokumenta predstaviti našoj medicinskoj javnosti smjernice za dijagnozu i liječenje odraslih bolesnika s Fabryjevom bolesti. Smjernice su sastavili stručnjaci iskusni u radu s bolesnicima koji boluju od rijetkih bolesti metabolizma i plod su iskustva rada s rijetkim bolestima u Zavodu za bolesti metabolizma Klinike za unutarnje bolesti KBC-a Zagreb, Referentnog centra Ministarstva zdravlja i Socijalne skrbi Republike Hrvatske za rijetke i metaboličke bolesti. Ove su smjernice jednoglasno prihvaćene na Godišnjoj skupštini Hrvatskog društva za rijetke bolesti Hrvatskoga liječničkog zbora. Radi se o prvim takvim smjernicama u Republici Hrvatskoj pa se ovom inicijativom Hrvatska priključuje ostalim europskim državama koje su donijele smjernice iz područja rijetkih bolesti metabolizma. Ove smjernice daju sažetak o Fabryjevoj bolesti, o tome kako dijagnosticirati, liječiti i pratiti bolesnike koji boluju od ove rijetke lizosomske bolesti nakupljanja.

• Keywords (english): Adult; Croatia; Fabry Disease / diagnosis; Fabry Disease / genetics; Fabry Disease / therapy; Genetic Counseling / methods; Genetic Testing; Humans; Interprofessional Relations; Isoenzymes / therapeutic use; Life Expectancy; Practice Guidelines as Topic; Quality of Life; Societies, Medical / standards; alpha-Galactosidase / therapeutic use
• Language: croatian
• Publication type: Professional paper - Professional paper
• Publication status: Published
• Peer review: Peer review
• Publication version: Published version
• Journal title: Liječnički vjesnik
• Numbering: vol. 136, no. 5-6, pp. 133-135
• p-ISSN: 0024-3477
• URN:NBN: urn:nbn:hr:105:670352
• Publication: 2014-05
• Document URL: http://lijecnicki-vjesnik.hlz.hr/lijecnicki-vjesnik/fabryjeva-bolest-smjernice-za-dijagnozu-i-lijecenje-odraslih-bolesnika/
• Type of resource: Text
• Access conditions: Open access
• Created on: 2024-03-28 08:01:45