Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study
Por:
Stanescu S, Correcher Medina P, Del Castillo FJ, Alonso Luengo O, Arto Millan LM, Belanger Quintana A, Camprodon Gomez M, Diez Langhetée L, Garcia Campos O, Matas Garcia A, Perez-Moreno J, Rubio Gribble B, Visa-Reñé N, Giraldo-Castellano P and O'Callaghan-Gordo M
Publicada:
1 oct 2023
Ahead of Print:
22 oct 2023
Resumen:
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.
Filiaciones:
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
Green Submitted, gold
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