7 years-experience of DIEL/LISIN in LSD diagnosis

ROZENFELD PA; CECI, R

Playa del Carmen, Mexico

Simposio; III Congreso Latinoamericano de Enfermedades Lisosomales; 2010

Diagnosis of lysosomal storage disorders (LSDs) in Argentina and some LatinAmerican (LA) countries may constitute a difficult task. Therefore LSDs are underdiagnosed and data about prevalence/incidence in LA is scarce. Some reasons of this scenario are high cost of reagents and assays, absence of company distributors of specific fluorometric reagents in LA, the need of specialized diagnosis centres and trained profesionals, difficulty of shipment of biological samples between countries due to regulatory issues at customs, high costs of determinations for the patients or insurance companies. The aim of this work is to present data of 7 years of experience of DIEL/LISIN, in diagnosis of Fabry, Gaucher and Hunter diseases. LSD diagnosis was carried out by enzymatic activity determination on dried blood spots on filter paper (DBFP) and/or leukocytes. Genetic testing for Fabry and Hunter diseases was offered to diagnosed patients and their female relatives in EDTA/blood or dried blood filter paper samples. Most of the samples (73%) sent to our lab were for Fabry disease diagnosis, whereas 6% were for Gaucher and 21% for Hunter. The rate of positive diagnosis was 8,61%, 35,47% and 17,65% for Fabry, Gaucher and Hunter diseases, respectively. Our lab had received samples from 8 different countries from LA. Mutations from all the 11 Fabry families were detected: 1 insertion, 1 nonsense and nine missense mutations. Mutations from Hunter families were detected in 10 families from the 11 families tested. Enzymatic activity and genetic testing on DBFP allowed samples from different LA countries to be tested, permitting a better access of patients to confirmatory diagnosis. In the recent years, because of the advent of specific therapy, special attention has been given to improve diagnosis and dissemination of knowledge of these disorders.