Hereditary Thrombotic Thrombocytopenic Purpura in a 9-Month-old: Diagnosing and Managing an Ultra-rare Disorder.
J Pediatr Hematol Oncol
; 43(4): e577-e579, 2021 05 01.
Article
em En
| MEDLINE
| ID: mdl-32496441
ABSTRACT
Hereditary thrombotic thrombocytopenic purpura is an ultra-rare disorder caused by biallelic mutations in the ADAMTS13 gene. Because it can be difficult to diagnose, plasma ADAMTS13 activity assessment should be considered in patients with thrombocytopenia, anemia, and schistocytes on peripheral blood smear. We present the diagnostic evaluation of a patient with hereditary thrombotic thrombocytopenic purpura. Genetic testing revealed one known pathogenic mutation and one novel mutation of ADAMTS13 classified as likely pathogenic on the basis of parental genetic testing and in silico analyses. We further discuss off-label use of prophylactic plasma-derived Factor VIII (Koate-DVI) and the benefit of rare disease registries.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Púrpura Trombocitopênica Trombótica
/
Proteína ADAMTS13
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Infant
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article