title: [Clinical study of the French cohort of Gaucher disease patients].
abstract: A census is currently being carried out of the French cohort of Gaucher disease patients. This article describes its preliminary results, obtained by analysing the records of 101 patients for whom clinical and laboratory data were accessible while they were receiving enzyme therapy. At the time of diagnosis, all patients presented with splenomegaly, 70% had asthenia and one in three was already affected by major bone damage. After 1 year of enzyme therapy, splenomegaly had diminished by half and the different scores (asthenia, bone pain and abdominal pain, etc.) had markedly improved, as had the biochemical markers. As for the 6 patients affected by type 3 Gaucher disease and treated with enzyme therapy after the onset of neurological signs, a stabilisation or even some improvement of the disease was observed. In-depth study of the French cohort should make it possible to formulate consensus recommendations for the future, based on well-established data.
authors.affiliation: Service de Médecine Interne, Hôpital Jean-Verdier, avenue du 14 juillet, 93140 Bondy, France. jerome.stirnemann@jvr.aphp.fr
authors.forename: J
authors.initials: J
authors.lastname: Stirnemann
mesh_terms: D017485:1-Deoxynojirimycin / Q000008:administration & dosage / Q000009:adverse effects / Q000031:analogs & derivatives* / Q000627:therapeutic use; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001247:Asthenia / Q000209:etiology; D015415:Biomarkers; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004791:Enzyme Inhibitors / Q000008:administration & dosage / Q000627:therapeutic use; D005500:Follow-Up Studies; D005544:Forecasting; D005602:France / Q000453:epidemiology; D005776:Gaucher Disease / Q000145:classification / Q000150:complications / Q000188:drug therapy* / Q000453:epidemiology; D005962:Glucosylceramidase / Q000008:administration & dosage / Q000009:adverse effects / Q000627:therapeutic use*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008875:Middle Aged; D011994:Recombinant Proteins / Q000008:administration & dosage / Q000627:therapeutic use; D013156:Splenectomy; D013163:Splenomegaly / Q000209:etiology / Q000601:surgery; D013997:Time Factors; D016896:Treatment Outcome
chemical_list: D015415:Biomarkers; D004791:Enzyme Inhibitors; D011994:Recombinant Proteins; D017485:1-Deoxynojirimycin; C059896:miglustat; D005962:Glucosylceramidase; C090568:imiglucerase