Document Detail


Evolution of Fabry disease in male patients: the Greek experience.
MedLine Citation:
PMID:  20040353     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Fabry disease is a progressive metabolic disorder with a clinical course characterized by different phases and a variety of disease manifestations. The first symptoms generally appear in childhood or early adolescence and are followed by late life-threatening complications involving vascular, renal, cardiac, and cerebral systems. We report the clinical and biochemical characteristics of 16 male patients from 10 unrelated families who represent almost the entire cohort of known Fabry patients in Greece. Despite the presence of early symptoms in almost every patient (mean age at onset of symptoms 15.6 years), the diagnosis was delayed for a mean of about 18 years (mean age of diagnosis 36 years). Patients are currently monitored and the majority (15 out 16 patients) treated with Enzyme Replacement Therapy.
Authors:
E Andrikos; C Iatrou; J N Boletis; A Diamandopoulos; C Katsinas; K Kalaitzidis; A Galinas; A Xaidara; M Pappas; K C Siamopoulos
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Clinical nephrology     Volume:  73     ISSN:  0301-0430     ISO Abbreviation:  Clin. Nephrol.     Publication Date:  2010 Jan 
Date Detail:
Created Date:  2009-12-30     Completed Date:  2010-03-08     Revised Date:  2014-03-25    
Medline Journal Info:
Nlm Unique ID:  0364441     Medline TA:  Clin Nephrol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  58-63     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Age Factors
Age of Onset
Disease Progression*
Fabry Disease / diagnosis*,  genetics,  therapy
Freedom
Genetic Predisposition to Disease
Genotype
Health Surveys
Humans
Kidney Failure, Chronic / etiology,  therapy
Male
Middle Aged
Mutation
Quality of Life
Renal Dialysis
alpha-Galactosidase / genetics*
Chemical
Reg. No./Substance:
EC 3.2.1.22/alpha-Galactosidase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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