Serum protein profile analysis in lysosomal storage disorders patients.

摘要: Abstract Introduction Serum protein electrophoresis (SPE) is a well-established technique to identify alterations in plasma profiles, caused by diseases as multiple myeloma (MM). In addition, it could be cost-effective discover new biomarkers. Relation between MM and lysosomal storage (LSDs) Gaucher disease has been set out but, not evaluated on other LSDs nor the utility of SPE first step biomarkers discovery projects. Materials methods Stored samples at diagnosis from several patients underwent analysis. Quality control was checked prior analyzed capillary electrophoresis. The analysis for monoclonal spikes differences each fraction patients’ vs data previously published, were evaluated. Furthermore, immunoprotein quantification free light chains ratio done nephelometry turbidimetry. Results Seventy-five LSD diagnosis, assessed. frequency MGUS higher than general population whereas one acid lipase deficiency infant showed increased IgA kappa deviation. Regarding usefulness discovery, statistically significant observed fractions healthy population. Discussion evaluation can useful tool understand pathophysiologic aspects LDSs and, simplify marker some them, appearance risk factor development despite its studied diagnosis.