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FABRY DISEASE – GUIDELINES FOR DIAGNOSIS AND MANAGEMENT OF ADULT PATIENT

Marijan Merkler
Ivan Pećin
Iveta Šimić
Diana Muačević-Katanec
Nediljko Šućur
Željko Reiner


Puni tekst: hrvatski pdf 113 Kb

preuzimanja: 1.268

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Sažetak

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.

Ključne riječi

Fabry disease – diagnosis, genetics, drug therapy; Alpha-galactosidase – therapeutic use; Isoenzymes – therapeutic use; Enzyme replacement therapy; Practice guidelines as topic; Croatia

Hrčak ID:

172603

URI

https://hrcak.srce.hr/172603

Datum izdavanja:

30.6.2014.

Podaci na drugim jezicima: hrvatski

Posjeta: 2.704 *