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Tabela de Diagnóstico Diferencial

OS SINAIS E SINTOMAS DA ASMD ASSEMELHAM-SE AOS DE OUTRAS DOENÇAS QUE PODE VER NA SUA PRÁTICA CLÍNICA1,2

Os sinais e sintomas da ASMD frequentemente mimetizam os de outras doenças lisossomais de sobrecarga, doenças hematológicas oncológicas e doenças cardíacas e pulmonares1-10

 

Faça o download da tabela de diagnóstico diferencial

O diagnóstico paralelo para a ASMD e a doença de Gaucher pode ajudar a reduzir o atraso no diagnóstico em doentes com ASMD2

  1. 1. McGovern MM, Avetisyan R, Sanson B-J, Lidove O. Disease manifestations and burden of illness in patiets with acid sphingomyelinase deficiency (ASMD). Orphanet J Rare Dis. 2017;12:41. doi:10.1186/s13023-017-0572-x.
  2. Cassiman D, Packman S, Bembi B, et al. Cause of death in patients with chronic visceral and chronic neurovisceral acidsphingomyelinase deficiency (Niemann-Pick disease type B and B variant): literature review and report of new cases. Mol Genet Metab. 2016;118(3):206-213. doi:10.1016/j.ymgme.2016.05.001.
  3. Henderson SL, Packman W, Packman S. Psychosocial aspects of patients with Niemann-Pick disease, type B. Am J Med enet A. 2009;149A(11):2430-2436. doi:10.1002/ajmg.a.33077.
  4. McGovern MM, Dionisi-Vici C, Giugliani R, et al. Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency. Genet Med. 2017;19(9)967-974. doi:10.1038/gim.2017.7.
  5. McGovern MM, Lippa N, Bagiella E, Schuchman EH, Desnick RJ, Wasserstein MP. Morbidity and mortality in type B Niemann-Pick disease. Genet Med. 2013;15(8):618-623. doi:10.1038/gim.2013.4.
  6. Schuchman EH, Desnick RJ. Types A and B Niemann-Pick disease. Mol Genet Metab. 2017;120(1-2):27-33. doi:10.1016/j.ymgme.2016.12.008.
  7. Wasserstein M, Dionisi-Vici C, Giugliani R, et al. Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD). Mol Genet Metab. 2019;126(2):98-105. doi:10.1016/j.ymgme.2018.11.014.
  8. McGovern MM, Aron A, Brodie SE, Desnik RJ, Wasserstein MP. Natural history of type A NiemannPick disease: possible endpoints for therapeutic trials. Neurology. 2006;66(2):228-232.
  9. Grabowski GA, Andria G, Baldellou A, et al. Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment: consensus statements. Eur J Pediatr. 2004;163(2):58- 66. doi:10.1007/s00431-003-1362-0.
  10. Larson RA, Anastasi J. Acute lymphoblastic leukemia: clinical presentation, diagnosis, and classification. In: Estey EH, Faderl SH, Kantarjian HM, eds. Hematologic Malignancies: Acute Leukemias. Heidelberg, Germany: Springer-Verlag; 2008:109-118. Diptico ASMD_PT.pdf
MAT-PT-2100427 | V3.0 | Maio de 2023