Sanfilippo syndrome type B: a review of patients diagnosed by the MPS Brazil Network. Federhen, A., Poswar, F., O., Trapp, F., B., da Rosa, H., C., Silva, L., P., Rocha, D., L., Burin, M., G., Guidobono, R., R., De Mari, J., F., Bitencourt, F., Leistner-Segal, S., Facchin, A., C., B., Matte, U., S., & Giugliani, R. Molecular Genetics and Metabolism, 120(1-2):S45, 1, 2017. doi abstract bibtex Introduction: MPS Brazil Network (MBN) was created to improve diagnosis and management of MPS diseases in Brazil. So far, 1,297 MPS patients were identified, being 96 (7.4%) diagnosed as having MPS IIIB.
Method(s): Data from the 84 Brazilian MPS IIIB patients were retrieved, in an attempt to draw a picture of the disease in the country. Data reviewed included: date of birth, date of diagnosis, Brazilian region of origin, gender, race, parental consanguinity and diagnostic hypothesis indicated by the referring physician.
Result(s): From the 84 patients, 42 were female and 42 male. Age of patients at diagnosis was, in average, 7.7 years (median was 6.4 years; range from 0.6 to 25.5). Race was reported only for 15 patients, being 11 classified as White and 4 as African Brazilian. Information regarding parental consanguinity was reported for 40 patients (47%). Of these, 22 couples were not consanguineous and 18 were consanguineous. Regarding the region of patient origin, information was available for 82 patients: 37 (45%) patients came from Southeast region, 27 (34%) from the South region, 8 (10%) from the Northeast region, 7 (8%) from the Center-West region, and 3 (3%) from the North region. The most frequent diagnostic hypotheses indicated by the referring doctors were: MPS 27; MPS III 22; IEM 13; MPS I 12; MPS II 7; and MPS IIIB 6.
Conclusion(s): The disease seems to be underdiagnosed in Brazil, at least in the Northeast, North and Center-West regions. Diagnosis in Brazil occurs late in the course of the disease, being a diagnostic suspicion raised more commonly only when somatic manifestations become apparent. There is a need to increase awareness of health professionals about the early manifestations of MPS IIIB, especially as specific therapies are being developed for this disease.
@article{
title = {Sanfilippo syndrome type B: a review of patients diagnosed by the MPS Brazil Network},
type = {article},
year = {2017},
pages = {S45},
volume = {120},
month = {1},
id = {11d8ffc7-f14b-3637-8bfc-e4ef93518dcf},
created = {2018-08-14T04:28:28.975Z},
file_attached = {false},
profile_id = {a1b2ded6-b257-3e56-ac7c-9d438762d170},
last_modified = {2021-10-19T17:30:57.698Z},
read = {false},
starred = {false},
authored = {true},
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abstract = {Introduction: MPS Brazil Network (MBN) was created to improve diagnosis and management of MPS diseases in Brazil. So far, 1,297 MPS patients were identified, being 96 (7.4%) diagnosed as having MPS IIIB. <br/>Method(s): Data from the 84 Brazilian MPS IIIB patients were retrieved, in an attempt to draw a picture of the disease in the country. Data reviewed included: date of birth, date of diagnosis, Brazilian region of origin, gender, race, parental consanguinity and diagnostic hypothesis indicated by the referring physician. <br/>Result(s): From the 84 patients, 42 were female and 42 male. Age of patients at diagnosis was, in average, 7.7 years (median was 6.4 years; range from 0.6 to 25.5). Race was reported only for 15 patients, being 11 classified as White and 4 as African Brazilian. Information regarding parental consanguinity was reported for 40 patients (47%). Of these, 22 couples were not consanguineous and 18 were consanguineous. Regarding the region of patient origin, information was available for 82 patients: 37 (45%) patients came from Southeast region, 27 (34%) from the South region, 8 (10%) from the Northeast region, 7 (8%) from the Center-West region, and 3 (3%) from the North region. The most frequent diagnostic hypotheses indicated by the referring doctors were: MPS 27; MPS III 22; IEM 13; MPS I 12; MPS II 7; and MPS IIIB 6. <br/>Conclusion(s): The disease seems to be underdiagnosed in Brazil, at least in the Northeast, North and Center-West regions. Diagnosis in Brazil occurs late in the course of the disease, being a diagnostic suspicion raised more commonly only when somatic manifestations become apparent. There is a need to increase awareness of health professionals about the early manifestations of MPS IIIB, especially as specific therapies are being developed for this disease.},
bibtype = {article},
author = {Federhen, Andressa and Poswar, Fabiano Oliveira and Trapp, Franciele Barbosa and da Rosa, Heluísa Castagnino and Silva, Laysla Pedelhes and Rocha, Daniele Lima and Burin, Maira Graeff and Guidobono, Regis R and De Mari, Jurema F and Bitencourt, Fernanda and Leistner-Segal, Sandra and Facchin, Ana Carolina Brusius and Matte, Ursula Silveira and Giugliani, Roberto},
doi = {10.1016/j.ymgme.2016.11.092},
journal = {Molecular Genetics and Metabolism},
number = {1-2}
}
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Regarding the region of patient origin, information was available for 82 patients: 37 (45%) patients came from Southeast region, 27 (34%) from the South region, 8 (10%) from the Northeast region, 7 (8%) from the Center-West region, and 3 (3%) from the North region. The most frequent diagnostic hypotheses indicated by the referring doctors were: MPS 27; MPS III 22; IEM 13; MPS I 12; MPS II 7; and MPS IIIB 6. <br/>Conclusion(s): The disease seems to be underdiagnosed in Brazil, at least in the Northeast, North and Center-West regions. Diagnosis in Brazil occurs late in the course of the disease, being a diagnostic suspicion raised more commonly only when somatic manifestations become apparent. 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