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| Poswar,Fabiano de Oliveira; Vairo,Filippo; Burin,Maira; Michelin-Tirelli,Kristiane; Brusius-Facchin,Ana Carolina; Kubaski,Francyne; Souza,Carolina Fischinger Moura de; Baldo,Guilherme; Giugliani,Roberto. |
| Abstract Lysosomal diseases (LDs), also known as lysosomal storage diseases (LSDs), are a heterogeneous group of conditions caused by defects in lysosomal function. LDs may result from deficiency of lysosomal hydrolases, membrane-associated transporters or other non-enzymatic proteins. Interest in the LD field is growing each year, as more conditions are, or will soon be treatable. In this article, we review the diagnosis of LDs, from clinical suspicion and screening tests to the identification of enzyme or protein deficiencies and molecular genetic diagnosis. We also cover the treatment approaches that are currently available or in development, including hematopoietic stem cell transplantation, enzyme replacement therapy, small molecules, and gene therapy. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Lysosomal storage diseases; Neonatal screening; Hematopoietic stem cell transplantation; Enzyme replacement therapy; Gene therapy. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200165 |
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| Alegra,Taciane; Vairo,Filippo; de Souza,Monica V.; Krug,Bárbara C.; Schwartz,Ida V.D.. |
| The specific treatment available for Fabry disease (FD) is enzyme replacement therapy (ERT) with agalsidase alfa or beta. A systematic review and meta-analysis was conducted to assess the efficacy and safety of ERT for FD. Only double-blind, randomized clinical trials (RCTs) comparing agalsidase alfa or beta and placebo were included. ERT with either agalsidase alfa or beta was considered similar for the purposes of analysis. Ten RCTs were identified, which showed improvements in neuropathic pain, in heart abnormalities and in globotriaosylceramide (GL-3) levels. A meta-analysis showed increased odds for fever, rigors, development of IgG antibodies to agalsidase, and no significant association with development of hypertension or reduction in the QRS... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Fabry disease; Fabry disease/therapy; Enzyme replacement therapy; Alpha-Galactosidase. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000600009 |
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| Koppe,Tiago; Doneda,Divair; Siebert,Marina; Paskulin,Livia; Camargo,Matheus; Tirelli,Kristiane Michelin; Vairo,Filippo; Daudt,Liane; Schwartz,Ida Vanessa D.. |
| Abstract The clinical utility of serum ferritin as a biomarker of disease severity and prognosis in Gaucher disease (GD) is still debated. Here, we aimed to evaluate ferritin and its relation to clinicolaboratory parameters of GD patients seen at the Reference Center for Gaucher Disease of Rio Grande do Sul, Brazil, so as to gather evidence on the utility of ferritin as a biomarker of this condition. A retrospective chart review was performed collecting pre-and posttreatment data from GD patients. Eighteen patients with ferritin levels available before and after treatment were included in the study. Nine of these participants were males, and seventeen had type I GD. All patients were given either enzyme replacement (n = 16) or substrate reduction therapy... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Ferritin; Biomarkers; Gaucher disease; Iron metabolism. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000100030 |
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