Platelet Dysfunction in Noonan and 22q11.2 Deletion Syndromes in Childhood.
Thromb Haemost
; 120(3): 457-465, 2020 Mar.
Article
em En
| MEDLINE
| ID: mdl-32135567
ABSTRACT
INTRODUCTION:
An underlying thrombocytopathy seems to be responsible for hemorrhagic symptoms in patients diagnosed with 22q11.2 deletion syndrome (22q11DS) or Noonan syndrome (NS). In 22q11DS, it is explained by a defect in the membrane glycoprotein (GP) complex Ib-V-IX. The cause of thrombocytopathy in NS remains unclear.AIM:
The objective is to study the incidence of thrombocytopathy in pediatric patients diagnosed with 22q11DS or NS assessing the utility of ISTH-BAT questionnaire and laboratory techniques. MATERIALS ANDMETHODS:
Prospective study between March and December 2018 in children (2-18 years old) diagnosed with 22q11DS or NS. Hemorrhagic symptoms using ISTH-BAT score, total cell blood count, platelet indices, PFA-200 closure times, and platelet aggregation were evaluated in all patients and membrane GP expression in 22q11DS patients.RESULTS:
Nearly 70% of NS patients (n = 22) had a platelet aggregation defect without thrombocytopenia. A defect of platelet aggregation with adenosine diphosphate (ADP) and epinephrine was the most frequent pattern. A statistically significant inverse correlation between closure times and aggregation with arachidonic acid (p = 0.049, p = 0.043) and epinephrine (p = 0.021, p = 0.035), and ADP (p = 0.117, p = 0.05) was found. Total 5 out of 29 patients diagnosed with 22q11DS had macrothrombocytopenia; more noteworthy in older patients. Twenty-six patients showed an impairment in ristocetin-induced platelet aggregation that correlated with prolonged collagen/epinephrine (p = 0.034) and collagen/ADP (p = 0.01). A significant association between ISTH-BAT score >3 and closure times (p = 0.022, p = 0.002) and aggregation defect with ristocetin (p = 0.043) was also demonstrated.CONCLUSION:
Most NS and 22q11DS patients show an impairment of platelet aggregation that correlates with closure times. In 22q11DS patients, these results were also related to hemorrhagic symptoms.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Plaquetas
/
Complexo Glicoproteico GPIb-IX de Plaquetas
/
Síndrome de DiGeorge
/
Síndrome de Noonan
Tipo de estudo:
Observational_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
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Male
Idioma:
En
Revista:
Thromb Haemost
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Espanha