Document Detail


Co-morbidity in Gaucher's disease results of a nationwide enquiry in Spain.
MedLine Citation:
PMID:  10882637     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
SHORT INTRODUCTION: Gaucher's disease (GD) is an autosomal recessive disease produced by mutations of the Glucocerebrosidase gene. Carriers are considered to be healthy subjects because there is no manifestation of the disease, but they show signs of macrophage disfunction. The aim of the study was to determine if GD patients and non affected carriers risk suffering other diseases when compared to healthy non-carrier relatives. MATERIAL AND METHODS: DESIGN: Epidemiologic study of historic cohorts. The fact that they have one or two mutated alleles has been considered to be the risk factor leading to other conditions (Dementia, Parkinson disease, Ischemic stroke, Ischemic heart disease, Non rheumatic valvular disease, Cancer hematological and non-hematological, Pulmonary fibrosis, Tuberculosis, Gallstones and Schizophrenia). All people, patients, carriers and healthy controls shared the same genetical background and environmental influence. - Patients and relatives enrolled on the Spanish Gaucher Disease Registry were evaluated. STATISTICS: For the Relative-Risk calculation the Mantel-Haenszel test was applied. Yates' correction was used when size sample was too small. A value of p <0.05 was accepted for statistical significance. RESULTS: 370 people, from 79 different families, were surveyed. We received evaluable information from 45 families (56%), totalling 258 people (69%): 59 healthy subjects (Mean age 32. 20, RANGE: 10-85; M 57.63%/F 42.37%), 132 carriers (Mean age 35.91, RANGE: 1-79; M 56.82%/F 43.18%) and 67 patients (Mean age 32.16, Range: 1-76; M 44.78%/F 55.22%. - Relative Risk of suffering any disease with regard to Gaucher's status: Patient vs Healthy 9.69 (95% Confidence interval [CI] 2.00-63.99; p 0.0006). Patient vs Carrier 3.74 (CI 1.53-9.27; p 0.001); Carrier vs Healthy 2.59 (CI 0. 52-12.50; p 0.21). Relative Risk of suffering any disease with regard to sex was 3.96 for female patients (CI 1.01-16.75; p 0.02) and 1.34 for female carriers (CI 0.27-6.75; p = 0.68). CONCLUSION: As a group, Gaucher's patients seem to have a greater risk of suffering other common unrelated diseases than carriers or healthy relatives. This excess of risk is particularly higher among female patients and can not be explained in terms of differences in age. Carrier status doesn't seem to highten the risk of suffering other diseases.
Authors:
J Pérez-Calvo; M Bernal; P Giraldo; M A Torralba; F Civeira; M Giralt; M Pocovi
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  European journal of medical research     Volume:  5     ISSN:  0949-2321     ISO Abbreviation:  Eur. J. Med. Res.     Publication Date:  2000 Jun 
Date Detail:
Created Date:  2000-08-08     Completed Date:  2000-08-08     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9517857     Medline TA:  Eur J Med Res     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  231-5     Citation Subset:  IM    
Affiliation:
Servicio de Medicina Interna B, Hospital Clínico Universitario, Avda S. Juan Bosco no 15, 50009 Zaragoza, Spain. mibh-jperez@hcu-lblesa.es.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Aged
Aged, 80 and over
Alleles*
Child
Cohort Studies
Female
Gaucher Disease* / complications,  epidemiology,  genetics
Genetic Predisposition to Disease
Glucosylceramidase / genetics*
Heterozygote*
Humans
Male
Middle Aged
Mutation
Risk Factors
Spain / epidemiology
Chemical
Reg. No./Substance:
EC 3.2.1.45/Glucosylceramidase

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


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