Fabry disease revisited: Management and treatment recommendations for adult patients

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F18%3A10376678" target="_blank" >RIV/00216208:11110/18:10376678 - isvavai.cz</a>

Výsledek na webu

<a href="https://doi.org/10.1016/j.ymgme.2018.02.014" target="_blank" >https://doi.org/10.1016/j.ymgme.2018.02.014</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.ymgme.2018.02.014" target="_blank" >10.1016/j.ymgme.2018.02.014</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Fabry disease revisited: Management and treatment recommendations for adult patients

Popis výsledku v původním jazyce

Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GM gene leading to deficient a-galactosidase A activity, glycosphingolipid accumulation, and life-threatening complications. Phenotypes vary from the &quot;classic&quot; phenotype, with pediatric onset and multi-organ involvement, to later-onset, a predominantly cardiac phenotype. Manifestations are diverse in female patients in part due to variations in residual enzyme activity and X chromosome inactivation patterns. Enzyme replacement therapy (ERT) and adjunctive treatments can provide significant clinical benefit. However, much of the current literature reports outcomes after late initiation of ERT, once substantial organ damage has already occurred. Updated monitoring and treatment guidelines for pediatric patients with Fabry disease have recently been published. Expert physician panels were convened to develop updated, specific guidelines for adult patients. Management of adult patients depends on 1) a personalized approach to care, reflecting the natural history of the specific disease phenotype; 2) comprehensive evaluation of disease involvement prior to ERT initiation; 3) early ERT initiation; 4) thorough routine monitoring for evidence of organ involvement in non-classic asymptomatic patients and response to therapy in treated patients; 5) use of adjuvant treatments for specific disease manifestations; and 6) management by an experienced multidisciplinary team.

Název v anglickém jazyce

Fabry disease revisited: Management and treatment recommendations for adult patients

Popis výsledku anglicky

Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GM gene leading to deficient a-galactosidase A activity, glycosphingolipid accumulation, and life-threatening complications. Phenotypes vary from the &quot;classic&quot; phenotype, with pediatric onset and multi-organ involvement, to later-onset, a predominantly cardiac phenotype. Manifestations are diverse in female patients in part due to variations in residual enzyme activity and X chromosome inactivation patterns. Enzyme replacement therapy (ERT) and adjunctive treatments can provide significant clinical benefit. However, much of the current literature reports outcomes after late initiation of ERT, once substantial organ damage has already occurred. Updated monitoring and treatment guidelines for pediatric patients with Fabry disease have recently been published. Expert physician panels were convened to develop updated, specific guidelines for adult patients. Management of adult patients depends on 1) a personalized approach to care, reflecting the natural history of the specific disease phenotype; 2) comprehensive evaluation of disease involvement prior to ERT initiation; 3) early ERT initiation; 4) thorough routine monitoring for evidence of organ involvement in non-classic asymptomatic patients and response to therapy in treated patients; 5) use of adjuvant treatments for specific disease manifestations; and 6) management by an experienced multidisciplinary team.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30201 - Cardiac and Cardiovascular systems

Projekt

—

Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Rok uplatnění

2018

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Molecular Genetics and Metabolism

ISSN

1096-7192

e-ISSN

—

Svazek periodika

123

Číslo periodika v rámci svazku

4

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

12

Strana od-do

416-427

Kód UT WoS článku

000430037100002

EID výsledku v databázi Scopus

2-s2.0-85043395605