Publications by authors named "P N d'Halluin"
Article Synopsis
- * A study analyzed immune cells from 41 male Fabry patients and 20 controls, revealing that FD patients show higher expression of specific markers (CD27 and CD28) in certain T cells, which correlates with the levels of harmful lipids (lysoGb3 and Gb3) in the blood.
- * Treatment with agalsidase beta was found to increase Natural Killer cell proportions, suggesting potential new biomarker correlations that could enhance understanding and management of Fabry disease.
Respect of patient's autonomy is essential. So that patients are able to write their advance directives in case of a situation where they are unable to make decisions for themselves. Currently, few people have written advance directives.
View Article and Find Full Text PDFBackgroud: Fabry disease (OMIM #301 500), the most prevalent lysosomal storage disease, is caused by enzymatic defects in alpha-galactosidase A (GLA gene; Xq22.1). Fabry disease has historically been characterized by progressive renal failure, early stroke and hypertrophic cardiomyopathy, with a diminished life expectancy.
View Article and Find Full Text PDFArticle Synopsis
- Fabry disease is an X-linked disorder linked to a deficiency in an enzyme called alpha-galactosidase A, leading to classic and non-classic clinical phenotypes and was treated with enzyme replacement therapy (ERT) starting in 2001.
- In a study of 103 patients (53 males) in the French cohort FFABRY, it was found that 40% of men and 8% of women developed antibodies against ERT, with a significant prevalence in males with specific mutations and classic phenotype.
- The study showed that antibody levels, particularly IgG4 and IgG2, were correlated with treatment inhibition and plasma lysoGb3 levels, revealing an association between immune response and clinical outcomes in Fabry disease