Gaucherova bolest - smjernice za dijagnozu i liječenje odraslih bolesnika

Professional paper - Professional paper

• Title (english): Gaucher disease - guidelines for diagnosis and management of adult patients
• Author: Marijan Merkler
• Author: Iveta Šimić
• Author: Ivan Pećin
• 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)

Gaucher disease is an autosomal recessive disorder, characterized by decreased levels of the lysosomal enzyme glucocerebrosidase. This deficiency results in a decreased breakdown of this glycosphingolipid glucocerebroside, which accumulates in the lysosomes of the monocyte-macrophage system. It is the most common form of sphingolipidosis. Clinically, the principle signs of Gaucher's disease are hepatosplenomegaly, bone involvement, hematological changes and CNS involvement. The diagnosis of Gaucher disease has to be confirmed by the measurement of the activity of the enzyme glucocerebrosidase in leukocytes or fibroblasts and genetic testing. An effective therapy for Gaucher disease has now been available for more than 10 years. It consists of life-long intravenous replacement of the deficient enzyme--glucocerebrosidase. If enzyme replacement therapy is started early enough, it leads to significant improvement in patient's general condition and quality of life. The aim of this document is to provide to the Croatian medical audience the guidelines for diagnosis and management of adult patients with Gaucher disease. These guidelines are produced by specialists who have long lasting experience with patients with rare metabolic diseases working in the Division of Metabolic Diseases, Department of Internal Medicine, University Hospital Center Zagreb which is the Referral Center for Rare and Metabolic diseases of the Ministry of Health, 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 Gaucher disease.

Abstract (croatian)

Gaucherova bolest autosomno je recesivna bolest koju karakteriziraju snižene vrijednosti enzima glukocerebrozidaze u lizosomima. Ovaj nedostatak ima za posljedicu smanjenu razgradnju glukocerebrozida koji se nakupljaju u lizosomima monocita i makrofaga. Ova je bolest najčešći oblik sfingolipidoza. Klinički, najvažniji znakovi Gaucherove bolesti jesu hepatosplenomegalija, promjene kostiju, hematološke promjene, kao i promjene središnjega živčanog sustava. Dijagnoza Gaucherove bolesti potvrđuje se mjerenjem aktivnosti enzima glukocerebrozidaze u leukocitima ili fibroblastima i genskom analizom. Unatrag više od deset godina postoji učinkovita terapija za liječenje Gaucherove bolesti. Radi se o doživotnoj terapiji, intravenskoj primjeni enzima glukocerebrozidaze. Ako se enzimsko nadomjesno liječenje započne na vrijeme, dolazi do znatnog poboljšanja stanja bolesnika i kvalitete života. Cilj je ovog članka predstaviti medicinskoj javnosti smjernice za dijagnozu i liječenje odraslih bolesnika s Gaucherovom bolešću. Smjernice su sastavili stručnjaci iskusni u radu s pacijentima s rijetkim bolestima metabolizma i plod su dugogodišnjeg iskustva na radu s rijetkim bolestima u Zavodu za bolesti metabolizma Klinike za unutarnje bolesti Kliničkoga bolničkog centra Zagreb. Zavod je ujedno Referentni centar Ministarstva zdravlja i socijalne skrbi Republike Hrvatske za rijetke i metaboličke bolesti. Navedene smjernice prihvaćene su na Godišnjoj skupštini Hrvatskog društva za rijetke bolesti Hrvatskoga liječničkog zbora. Radi se o prvim takvim smjernicama u Republici Hrvatskoj pa se Hrvatska priključuje ostalim europskim zemljama koje su donijele smjernice iz područja rijetkih bolesti i metabolizma.

• Keywords (english): Adult; Algorithms; Croatia; Female; Gaucher Disease / diagnosis; Gaucher Disease / prevention & control; Gaucher Disease / therapy; Glucosylceramidase / administration & dosage; Humans; Internal Medicine / standards; Interprofessional Relations; Middle Aged; Neurologic Examination; Practice Guidelines as Topic; Quality of Life; Societies, Medical / standards
• 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. 130-133
• p-ISSN: 0024-3477
• URN:NBN: urn:nbn:hr:105:238424
• Publication: 2014-05
• Document URL: http://lijecnicki-vjesnik.hlz.hr/attachments/article/681/GAUCHEROVA%20BOLEST%20SMJERNICE%20ZA%20DIJAGNOZU%20I%20LIJEČENJE%20ODRASLIH%20BOLESNIKA.pdf
• Type of resource: Text
• Access conditions: Open access
• Created on: 2024-03-28 07:59:59