Detection of metabolic disorders in high-risk patients: a pilot study in Salvador, Bahia
Arq. neuropsiquiatr
;
55(2): 209-12, jun. 1997. tab
Article
Dans Anglais
| LILACS
| ID: lil-209174
ABSTRACT
The purpose of this pilot-study was to evaluate the applicability of a screening protocol for the detection of inborn errors of metabolism (IEM) in high-risk patients. The protocol was applied in 65 patients referred to the Medical Genetics Laboratory of the University Hospital Professor Edgard Santos due to the suspicion of an IEM. Eight of these patients (12.3 percent) displayed an abnormal result in the screening protocol. These patients, along with 22 who displayed normal results in the screening protocol but who presented clinical symptoms or signs suggestive of an IEM not detectable by the tests applied, were selected for a further diagnostic investigation. In 5 of these 30 patients (7.7 percent of the total sample) it was possible to establish the diagnosis of an specific IEM. The results indicate that the designed screening protocol was sucessfully applied, allowing the detection of affected patients in a frequency comparable to that observed in larger studies performed elsewhere. The continuation of this study and the enlargement of the sample will help to delineate the profile of IEM in northeast of Brazil and will allow the identification of a significative number of patients and families. who could benefit from the therapeutic and preventive measures available for these diseases.
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Risque
/
Maladies métaboliques
Type d'étude:
Etude diagnostique
/
Etude d'étiologie
/
Guide de pratique
/
Étude pronostique
/
Facteurs de risque
Limites du sujet:
Humains
Pays comme sujet:
Amérique du Sud
/
Brésil
langue:
Anglais
Texte intégral:
Arq. neuropsiquiatr
Thème du journal:
Neurologie
/
Psychiatrie
Année:
1997
Type:
Article
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS