> Details

Stanescu, Sinziana; Correcher Medina, Patricia; del Castillo, Francisco J.; Alonso Luengo, Olga; Arto Millan, Luis Maria; Belanger Quintana, Amaya; Camprodon Gomez, Maria; Diez Langhetée, Lydia; Garcia Campos, Oscar; Matas Garcia, Ana; Perez-Moreno, Jimena; Rubio Gribble, Barbara; Visa-Reñé, Nuria; Giraldo-Castellano, Pilar; O’Callaghan Gordo, Mar

Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study

Reference
management

Bookmarks

Remove from
bookmarks

Share this on Whatsapp

Close

Bookmarks



You can manage bookmarks using lists, please log in to your user account for this.
  • Media type: E-Article
  • Title: Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study
  • Contributor: Stanescu, Sinziana; Correcher Medina, Patricia; del Castillo, Francisco J.; Alonso Luengo, Olga; Arto Millan, Luis Maria; Belanger Quintana, Amaya; Camprodon Gomez, Maria; Diez Langhetée, Lydia; Garcia Campos, Oscar; Matas Garcia, Ana; Perez-Moreno, Jimena; Rubio Gribble, Barbara; Visa-Reñé, Nuria; Giraldo-Castellano, Pilar; O’Callaghan Gordo, Mar
  • imprint: MDPI AG, 2023
  • Published in: Biomedicines
  • Language: English
  • DOI: 10.3390/biomedicines11102861
  • ISSN: 2227-9059
  • Keywords: General Biochemistry, Genetics and Molecular Biology ; Medicine (miscellaneous)
  • Origination:
  • Footnote:
  • Description: <jats:p>This was a retrospective, multicenter study that aimed to report the characteristics of type 3 Gaucher disease (GD3) patients in Spain, including the genotype, phenotype, therapeutic options, and treatment responses. A total of 19 patients with GD3 from 10 Spanish hospitals were enrolled in the study (14 men, 5 women). The median age at disease onset and diagnosis was 1 and 1.2 years, respectively, and the mean age at follow-up completion was 12.37 years (range: 1–25 years). Most patients exhibited splenomegaly (18/19) and hepatomegaly (17/19) at the time of diagnosis. The most frequent neurological abnormalities at onset were psychomotor retardation (14/19) and extrinsic muscle disorders (11/19), including oculomotor apraxia, supranuclear palsy, and strabismus. The L444P (c.1448T&gt;C) allele was predominant, with the L444P (c.1448T&gt;C) homozygous genotype mainly associated with visceral manifestations like hepatosplenomegaly, anemia, and thrombocytopenia. All patients received enzyme replacement therapy (ERT); other treatments included miglustat and the chaperone (ambroxol). Visceral manifestations, including hepatosplenomegaly and hematological and bone manifestations, were mostly controlled with ERT, except for kyphosis. The data from this study may help to increase the evidence base on this rare disease and contribute to improving the clinical management of GD3 patients.</jats:p>
  • Access State: Open Access