PMID: 16644396Apr 29, 2006Paper

Clinical study of the French cohort of Gaucher disease patients

La Revue de médecine interne
J Stirnemann

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.

Citations

Aug 5, 2010·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·R-M JavierC Roux
Mar 23, 2010·La Presse médicale·Roseline Froissart
Oct 3, 2008·La Presse médicale·Faten FrikhaZouheir Bahloul
May 15, 2007·La Presse médicale·Rose-Marie Javier, Eric Hachulla
Jul 31, 2007·Dermatologic Clinics·Medhat A El-MoftyMona R E Abdel-Halim

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