Abstract for presentation at 11th International Congress of Human Genetics

Purpose:To present the results of the first 20 months of operation of the MPS-BRAZIL NETWORK,a collaborative initiative joining several centers from different Brazilian regions(Southeast or SE, South or S, Northeast or NE, North or N and West-Center or WC)to improve the diagnosis and management of Mucopolysaccharidoses(MPS)diseases in the country.Methods:The Medical Genetics Service of Hospital de Clínicas de Porto Alegre is the coordinating center,providing the information(call-free number and e-mail,webpage)on the management of patients and making available the laboratorial tests necessary for their diagnosis.Results:1)During this period,269 Brazilian patients suspected of having MPS were investigated;the diagnosis of MPS was confirmed in 163/269 patients;2)MPS I was confirmed in 42/163 patients(mean age at diagnosis:5yr3mo;region of origin:28 SE,12 S,2 NE);3)MPS II was confirmed in 46/163 patients(mean age at diagnosis: 7yr10mo;region of origin:27 SE,10 NE,7 S,1 N,1 WC);4)MPS III was confirmed in 20/163 patients(mean age at diagnosis:8yr; region of origin:13 SE,4 S,3 NE;most frequent type:MPS III-C);5)MPS IV was confirmed in 13/163 patients (mean age at diagnosis: 10yr 9mo; region of origin:5 SE,4 NE,4 S;most frequent type:MPS IV-A);6)MPS VI was confirmed in 39/163 patients(mean age at diagnosis:6yr6mo; region of origin:21 SE,10 NE,5 N,2 S,1 WC);7)MPS VII was confirmed in 3/163 patients from the SE region(mean age at diagnosis:5yr5mo). Conclusions:MPS I,II and VI seem to be the most frequent types of MPS in Brazil,and MPS III seems to be underdiagnosed.There seems to be a difference in regional distribution of MPS,since MPS I is more common in the S and SE regions,while MPS VI seems to be less frequent in the S region.Mean age at diagnosis is higher in MPS III and IV.These findings highlight the need for a greater dissemination of information on the clinical manifestations of MPS among health professionals.(Support:CNPq,CECRE)