Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia.
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
28 01 2021
28 01 2021
Historique:
received:
26
10
2020
accepted:
14
01
2021
entrez:
29
1
2021
pubmed:
30
1
2021
medline:
2
10
2021
Statut:
epublish
Résumé
Hematologists are frequently involved in the diagnostic pathway of Gaucher disease type 1 (GD1) patients since they present several hematological signs. However, GD1 is mainly underdiagnosed because of a lack of awareness. In this multicenter study, we combine the use of a diagnostic algorithm with a simple test (β-glucosidase activity on Dried Blood Spot) in order to facilitate the diagnosis in a population presenting to the hematologist with splenomegaly and/or thrombocytopenia associated with other hematological signs. In this high-risk population, the prevalence of GD1 is 3.3%. We propose an equation that predicts the probability of having GD1 according to three parameters that are routinely evaluated: platelet count, ferritin, and transferrin saturation.
Identifiants
pubmed: 33510429
doi: 10.1038/s41598-021-82296-z
pii: 10.1038/s41598-021-82296-z
pmc: PMC7843616
doi:
Substances chimiques
beta-Glucosidase
EC 3.2.1.21
Types de publication
Clinical Trial
Journal Article
Multicenter Study
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2594Investigateurs
Francesca Farina
(F)
Katia Codeluppi
(K)
Elena Rivolti
(E)
Federico Simonetti
(F)
Francesca Lunghi
(F)
Tommasina Perrone
(T)
Nicola Sgherza
(N)
Valentina Carrai
(V)
Anna Maria Cafro
(AM)
Roberto Cairoli
(R)
Angela Amendola
(A)
Elena Trabacchi
(E)
Daniele Vallisa
(D)
Ilaria Burgo
(I)
Augusto Bramante Federici
(AB)
Cecilia Carbone
(C)
Mariella D'Adda
(M)
Donato Mannina
(D)
Valeria Di Giacomo
(V)
Giulia Lupparelli
(G)
Alessandra Lombardo
(A)
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