Pompeova bolest – smjernice za dijagnozu i liječenje odraslih bolesnika

Professional paper - Professional paper

• Title (english): Pompe disease - guidelines for diagnosis and management of adult patients
• Author: Ivan Pećin
• Author: Diana Muačević-Katanec
• Author: Iveta Šimić
• Author: Ksenija Fumić
• Author: Kristina Potočki
• 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)

These guidelines provide a short summary of recommendations on Pompe disease, how to diagnose this disease, management of adult patients with this disease, follow-up of the patients and recommendations on therapy and genetic testing. Early diagnosis and management of patients with Pompe disease requires a multidisciplinary approach of several different experts. These guidelines were produced by the Division of Metabolic Diseases, Department of Internal Medicine, University Hospital Center Zagreb which is a Referral expert center for rare and metabolic diseases of the Ministry of Health of the Republic of Croatia. They were endorsed by the Croatian Society for Rare Diseases, Croatian Medical Association.These are the first guidelines published in Croatia on diagnosis, treatment and follow-up of Pompe disease.

Abstract (croatian)

Ove smjernice daju kratke naputke o Pompeovoj bolesti: kako dijagnosticirati, liječiti i pratiti bolesnike koji boluju od ove rijetke lizosomske bolesti nakupljanja. Rano postavljanje dijagnoze i liječenje bolesnika s Pompeovom bolesti zahtijevaju multidisciplinarni pristup niza stručnjaka. Smjernice su sastavili stručnjaci koji imaju iskustvo u radu s bolesnicima oboljelima od rijetkih bolesti metabolizma i plod su iskustva rada s rijetkim bolestima u Zavodu za bolesti metabolizma Klinike za unutarnje bolesti, KBC Zagreb, Referentnog centra Ministarstva zdravlja i socijalne skrbi Republike Hrvatske za rijetke i metaboličke bolesti. Smjernice su 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 (uz smjernice o Gaucherovoj i Fabryjevoj bolesti) Hrvatska priključuje ostalim europskim državama koje su donijele smjernice iz područja rijetkih bolesti metabolizma.

• Keywords (english): Adult; Croatia; Enzyme Replacement Therapy; Genetic Testing; Glucan 1,4-alpha-Glucosidase/therapeutic use; Glycogen Storage Disease Type II/diagnosis; Glycogen Storage Disease Type II/genetics; Glycogen Storage Disease Type II/therapy; Humans
• 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. 137, no. 7-8, pp. 216-218
• p-ISSN: 0024-3477
• URN:NBN: urn:nbn:hr:105:896937
• Publication: 2015-07
• Document URL: http://lijecnicki-vjesnik.hlz.hr/lijecnicki-vjesnik/pompeova-bolest-smjernice-za-dijagnozu-i-lijecenje-odraslih-bolesnika/
• Type of resource: Text
• Access conditions: Open access
• Created on: 2024-03-28 09:31:54