INVESTIGADORES
ROZENFELD paula Adriana
artículos
Título:
A successful approach for the detection of Fabry patients in Argentina
Autor/es:
ROZENFELD PA; TARABUSO A; EBNER R; RAMALLO G; FOSSATI CA
Revista:
CLINICAL GENETICS
Editorial:
WILEY-BLACKWELL PUBLISHING, INC
Referencias:
Año: 2006 vol. 69 p. 344 - 348
ISSN:
0009-9163
Resumen:
Fabry disease is an X-linked lysosomal disorder caused by the deficiency
of the lysosomal enzyme a-galactosidase A (a-Gal A). In males,
the laboratory diagnosis is based on the demonstration of decreased
levels of a-Gal A activity, while in females, the disease is diagnosed by
the identification of a mutation in a-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.a-galactosidase A (a-Gal A). In males,
the laboratory diagnosis is based on the demonstration of decreased
levels of a-Gal A activity, while in females, the disease is diagnosed by
the identification of a mutation in a-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.a-Gal A activity, while in females, the disease is diagnosed by
the identification of a mutation in a-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.a-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.
