| Autor: |
Stanescu S; Pediatric Metabolic Unit, Hospital Universitario Ramón y Cajal, European Reference Center (MetabERN), 28034 Madrid, Spain., Correcher Medina P; Pediatric Nutrition and Metabolic Unit, Hospital Universitario y Politécnico La Fe, 46026 Valencia, Spain., Del Castillo FJ; Genetics Department, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain., Alonso Luengo O; Pedriatic Unit, Hospital Universitario Virgen del Rocío, 41013 Seville, Spain., Arto Millan LM; Internal Medicine Unit, Complejo Asistencial Universitario de León, 24008 León, Spain., Belanger Quintana A; Pediatric Metabolic Unit, Hospital Universitario Ramón y Cajal, European Reference Center (MetabERN), 28034 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain., Camprodon Gomez M; Rare and Metabolic Diseases Unit, Hospital Universitario Vall d'Hebron, 08035 Barcelona, Spain., Diez Langhetée L; Minority Diseases Unit, Hospital de Manises, 46940 Valencia, Spain., Garcia Campos O; Pediatric Neurology Unit, Hospital Universitario de Toledo, 45007 Toledo, Spain., Matas Garcia A; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.; Muscle Research Unit, Internal Medicine Service, Hospital Clínic de Barcelona, 08036 Barcelona, Spain., Perez-Moreno J; Pedriatic Unit, Hospital General Universitario Gregorio Marañón, 28007 Madrid, Spain., Rubio Gribble B; Pedriatic Unit, Hospital Universitario de Getafe, 28905 Madrid, Spain., Visa-Reñé N; Pedriatic Unit, Hospital Universitari Arnau de Vilanova, 25198 Lleida, Spain., Giraldo-Castellano P; Fundación Española Para el Estudio y Terapéutica de la Enfermedad de Gaucher y Otras Lisosomales (FEETEG), 50006 Zaragoza, Spain., O'Callaghan Gordo M; Neurology Unit and Congenital Metabolic Diseases Unit, Hospital Sant Joan de Déu, 08950 Barcelona, Spain. |
| Abstrakt: |
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. |
