AM: Patients with Fabry disease (FD), a genetic disorder caused by lysosomal a-galactosidase-A enzyme deficiency and characterized by a systemic accumulation of globotriaosylceramides, present high prevalence of subclinical hypothyroidism. The pathogenic mechanism is thought not to be related to anti-thyroid autoimmunity and may be dependent by intra-thyroid lipid accumulation. In this study, it was investigated whether thyroid function recovers in FD after long-term enzyme replacement therapy (ERT).
Thyroid function in Fabry disease before and after enzyme replacement therapy / Faggiano, A; Severino, R; Ramundo, V; Russo, R; Vuolo, L; Del Prete, M; Marciello, F; Lombardi, G; Cianciaruso, B; Colao, A; Pisani, A. - In: MINERVA ENDOCRINOLOGICA. - ISSN 0391-1977. - 36:1(2011), pp. 1-5.
Thyroid function in Fabry disease before and after enzyme replacement therapy
Faggiano, A;Ramundo, V;
2011
Abstract
AM: Patients with Fabry disease (FD), a genetic disorder caused by lysosomal a-galactosidase-A enzyme deficiency and characterized by a systemic accumulation of globotriaosylceramides, present high prevalence of subclinical hypothyroidism. The pathogenic mechanism is thought not to be related to anti-thyroid autoimmunity and may be dependent by intra-thyroid lipid accumulation. In this study, it was investigated whether thyroid function recovers in FD after long-term enzyme replacement therapy (ERT).| File | Dimensione | Formato | |
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