[Gaucher disease and chitotriosidase].
The course of chitotriosidase levels was studied in 4 patients with type 1 Gaucher disease during treatment or during modifications to dosage or the frequency of administration. It proved to be a good marker of disease progression, before and during treatment. In the 4 patients treated by enzyme therapy, an increase in chitotriosidase levels before treatment and then its rapid and persistent decrease after treatment initiation closely followed the efficacy of the latter. When doses were reduced, the activity of chitotriosidase made it possible to check on the persisting efficacy of treatment and to detect at an early stage any insufficient dosage or poor compliance with treatment before any clinical complications arose. During any discontinuation of treatment (e.g. for pregnancy), its assay made it possible to plan a rapid resumption of treatment if necessary. For this reason, it is useful to assay this marker before initiating any treatment, and to regularly monitor changes in its levels and concentration, notably in the event of a dosage change or increase in the interval between intakes.
Guffon
N
N
Service des Maladies Métaboliques, Hôpital Edouard-Herriot, 5, place d'Arsonval, 69470 Lyon cedex 03, France. nathalie.guffon-fouilhoux@chu-lyon.fr
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D015415:Biomarkers; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D005776:Gaucher Disease / Q000097:blood / Q000145:classification / Q000175:diagnosis* / Q000188:drug therapy*; D005962:Glucosylceramidase / Q000008:administration & dosage / Q000627:therapeutic use*; D006596:Hexosaminidases / Q000097:blood*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D011247:Pregnancy; D011248:Pregnancy Complications / Q000097:blood / Q000175:diagnosis / Q000188:drug therapy; D013997:Time Factors; D016896:Treatment Outcome
D015415:Biomarkers; D006596:Hexosaminidases; C086400:chitotriosidase; D005962:Glucosylceramidase