Post on 22-Jul-2016
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Why do the Chitotriosidase?
Why a chitotriosidase campaign?
Chitotriosidase is the best available biomarker for Gaucher disease
Follow up can lead physicians to re-evaluate:
Disease deterioration Compliance Right dose
Chitotriosidase (most studied and more specific of Gaucher cells);
Chito activity decreases in response to ERT;
Positive correlations with organ enlargements, platelet count and hemoglobin levels.
Correlations with Clinical Presentation
50000 100000 150000 2000000
N=50spearman rho: 0.625, p
Response to ERT
ERT response (60 a 120 UI/kg eow) for 2 years:
Chito reduction: 40 a 70% (depending on the dose)
ERT response at 30 UI/kg eow for 12 months:
Chito decrease: 32%
78% showed at least a 15% decrease
Chito is absent in 6 8% of GD patients due to a mutation in chito gene.
Guidelines Monitoring Pediatric Patients
Increases in chito activity should prompt investigation of disease deterioration and patients compliance
Chamoles DBS Price Approx 46 USD
Address: Uriarte 2383, Capital Federal (1425), Argentina. Phones: +54 11 4774-8615 / +54 11 4778-1622
HCPA DBS R$120 Approx 40 USD
Adress: Hospital de Clinicas de Porto Alegre, Servios Gentica Mdica 3 andar - Rua Ramiro Barcelos 2350 Porto Alegre CEP 90035-903 Rio Grande do Sul, Brazil.
Phones: 0800 510 20 30 / +55 51 3359-08011
GD Chitotriosidase Blitz Campain
DBS (6 spots per patient). Collect drops in filter paper filling circles completely (do not add more than one drop per circle), leave it to air dry at room temperature for 2 hours. Ship in envelop at room temperature.
All samples must be shipped together with filled request form. Urine and Bloodsamples must not be shipped on Thursdays or Fridays or immediately before or after public holidays.