Stem cell transplantation for osteopetrosis in patients beyond the age of 5 years.
Journal
Blood advances
ISSN: 2473-9537
Titre abrégé: Blood Adv
Pays: United States
ID NLM: 101698425
Informations de publication
Date de publication:
26 03 2019
26 03 2019
Historique:
received:
10
09
2018
accepted:
03
02
2019
entrez:
20
3
2019
pubmed:
20
3
2019
medline:
28
3
2020
Statut:
ppublish
Résumé
Osteopetrosis (OP) is a rare disease caused by defective osteoclast differentiation or function. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment available in the infantile "malignant" form of OP. Improved clinical and genetic diagnosis of OP has seen the emergence of a cohort of patients with less severe and heterogeneous clinical presentations. This intermediate form of OP does not call for urgent intervention, but patients accumulate debilitating skeletal complications over years and decades, which are severe enough to require curative treatment and may also require intermittent transfusion of blood products. Here we present data from 7 patients with intermediate OP caused by mutations in
Identifiants
pubmed: 30885997
pii: bloodadvances.2018025890
doi: 10.1182/bloodadvances.2018025890
pmc: PMC6436016
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
862-868Informations de copyright
© 2019 by The American Society of Hematology.
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