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A successful approach for the detection of Fabry patients in Argentina
Author(s) -
Rozenfeld PA,
Tarabuso A,
Ebner R,
Ramallo G,
Fossati CA
Publication year - 2006
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2006.00594.x
Subject(s) - fabry disease , alpha galactosidase , missense mutation , enzyme replacement therapy , medicine , lysosomal storage disease , disease , genetic diagnosis , genetic testing , incidence (geometry) , pediatrics , mutation , genetics , gene , biology , physics , optics
Fabry disease is an X‐linked lysosomal disorder caused by the deficiency of the lysosomal enzyme α‐galactosidase A (α‐Gal A). In males, the laboratory diagnosis is based on the demonstration of decreased levels of α‐Gal A activity, while in females, the disease is diagnosed by the identification of a mutation in α‐Gal A gene. Fabry disease in Argentina is underdiagnosed. To date, no comprehensive screening study of Fabry disease in our country has been reported. The present study aimed at developing a targeted screening for the detection of Fabry patients from Argentina based on the set of typical signs and symptoms. We received 121 blood samples from probable Fabry patients for enzymatic and genetic assay. We diagnosed six Fabry patients from six unrelated families, representing a yield of detection of 4.96%. The mutations detected in five of the families analysed were missense mutations: p.Leu243Trp, p.Asp155His, p.Leu415Pro, p.Cys94Tyr and p.Leu191Pro. After the detection of a Fabry patient, his/her relatives were also screened. In the course of these family studies, other 64 Fabry patients, 29 males and 35 females, were detected. To our knowledge, this is the first comprehensive screening of Fabry disease in Argentina. We detected 70 patients in a period of 2.5 years. The development of targeted protocols and the constitution of interdisciplinary groups for the identification of patients with Fabry disease are recommended to obtain a higher yield in the process.