Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disorders.
Br J Haematol
; 150(6): 685-8, 2010 Sep.
Article
em En
| MEDLINE
| ID: mdl-20629659
ABSTRACT
Lowe syndrome (LS) is a rare X-linked disorder caused by mutations in the oculocerebrorenal gene (OCRL), encoding OCRL, a phosphatidylinositol 5-phosphatase with a RhoGAP domain. An abnormal rate of haemorrhagic events was found in a retrospective clinical survey. Herein, we report the results of exploration of haemostasis in six LS patients. All patients had normal coagulation tests but prolonged closure times (CTs) in the PFA-100 system. Healthy donors' blood samples incubated with a RhoA kinase inhibitor had prolonged CTs. This suggests that an aberrant RhoA pathway in platelets contributes to CT prolongation and primary haemostasis disorders in LS.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Monoéster Fosfórico Hidrolases
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Transtornos Hemostáticos
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Mutação
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Síndrome Oculocerebrorrenal
Tipo de estudo:
Observational_studies
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Risk_factors_studies
Limite:
Adolescent
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Child
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Child, preschool
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Humans
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Infant
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Male
Idioma:
En
Revista:
Br J Haematol
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
França