Sistema de Salut de Catalunya
Institut Català de la Salut
[Stanescu S] Pediatric Metabolic Unit, Hospital Universitario Ramón y Cajal, European Reference Center (MetabERN), Madrid, Spain. [Correcher Medina P] Pediatric Nutrition and Metabolic Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain. [Del Castillo FJ] Genetics Department, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. [Alonso Luengo O] Pedriatic Unit, Hospital Universitario Virgen del Rocío, Seville, Spain. [Arto Millan LM] Internal Medicine Unit, Complejo Asistencial Universitario de León, León, Spain. [Belanger Quintana A] Pediatric Metabolic Unit, Hospital Universitario Ramón y Cajal, European Reference Center (MetabERN), Madrid, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. [Camprodon Gomez M] Unitat de Malalties Metabòliques Hereditàries, Vall d’Hebron Hospital Universitari, Barcelona, Spain
Vall d'Hebron Barcelona Hospital Campus
2023-11-09T13:22:36Z
2023-11-09T13:22:36Z
2023-10-22
Gaucher disease type 3; Clinical manifestations; Mutations
Enfermedad de Gaucher tipo 3; Manifestaciones clínicas; Mutaciones
Malaltia de Gaucher tipus 3; Manifestacions clíniques; Mutacions
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>C) allele was predominant, with the L444P (c.1448T>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.
This research was funded by Sanofi Spain.
Article
Published version
English
Malalties rares; Gaucher, Malaltia de - Tractament; Gaucher, Malaltia de - Aspectes genètics; DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Brain Diseases, Metabolic::Brain Diseases, Metabolic, Inborn::Lysosomal Storage Diseases, Nervous System::Sphingolipidoses::Gaucher Disease; Other subheadings::Other subheadings::Other subheadings::/genetics; HEALTH CARE::Health Services Administration::Patient Care Management::Disease Management; ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades cerebrales metabólicas::enfermedades cerebrales metabólicas congénitas::enfermedades por almacenamiento lisosómico del sistema nervioso::esfingolipidosis::enfermedad de Gaucher; Otros calificadores::Otros calificadores::Otros calificadores::/genética; ATENCIÓN DE SALUD::administración de los servicios de salud::gestión de la atención al paciente::tratamiento de las enfermedades
MDPI
Biomedicines;11(10)
https://doi.org/10.3390/biomedicines11102861
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
Articles científics - HVH [3439]
