Functional Classification of Paediatric Patients with Non-syndromic Delta-Storage Pool Deficiency.
Hamostaseologie
; 39(4): 383-391, 2019 Nov.
Article
en En
| MEDLINE
| ID: mdl-30463093
ABSTRACT
Storage pool disease (SPD) covers a group of platelet defects in which α- and/or delta-granules are reduced or cannot be secreted adequately in response to agonists. The detection of delta-granule release defects is hampered by a lack of fast and feasible tests. We aimed to implement a flow cytometry-based kinetic mepacrine assay to better identify and subgroup childhood patients with a mild to moderate bleeding diathesis and compare our method to established laboratory tests. We analysed 50 children with suspected SPD whose initial parameters were re-assessed in a second site visit. Mepacrine uptake and release patterns were correlated with CD63 exposure, platelet ADP/ATP release and content, and the bleeding score ascertained by the ISTH-BAT. Mepacrine release was overall significantly reduced in investigated patients compared with controls. Summarizing, our time-resolved approach proved to be a quick and inexpensive tool that was additionally able to distinguish between mepacrine uptake, mepacrine release, and combined defects. Classification of patients using such a kinetic assay makes it feasible to sensitively detect frequently missed SPD and to group these patients for further analyses and clinical correlations.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Deficiencia de Almacenamiento del Pool Plaquetario
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
/
Child
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Child, preschool
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Female
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Humans
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Male
Idioma:
En
Año:
2019
Tipo del documento:
Article