Would mean platelet volume/platelet count ratio be used as a novel formula to predict 22q11.2 deletion syndrome?
Asian Pac J Allergy Immunol
; 34(2): 166-73, 2016 Jun.
Article
em En
| MEDLINE
| ID: mdl-27007839
ABSTRACT
BACKGROUND:
The diagnosis of 22q11.2 deletion syndrome depends on a time-consuming and expensive method, fluorescence in situ hybridisation (FISH).OBJECTIVES:
We aimed to determine new parameters which can aid for in the diagnosis of 22q11.2 deletion syndrome.METHODS:
Twenty two patients with 22q11.2 or 10p13 deletion were evaluated retrospectively.RESULTS:
Facial-dysmorphism and mental-motor retardation were detected in 100% of patients. Mean platelet (PLT) counts were lower (224,980 versus 354,000, p = 0.001), mean PLT volume (MPV) (9.95 versus 7.07, p = 0.002), and MPV/PLTx105 ratios (5.36 versus 2.08, p < 0.001) were higher in patients with 22q11.2 deletion compared with the control group. Area under the receiver-operator characteristic (ROC) curve was 0.864, sensitivity was 84.6%, specificity was 90.9%, positive predictive value (PPV) was 91.7%, and negative predictive value (NPV) was 83.3% when MPV was 8.6. Area under ROC curve was 0.864, sensitivity was 76.9%, specificity was 90.1%, PPV was 90.1%, and NPV was 76.3% when PLT was 265,500. Area under ROC curve was 0.906, sensitivity was 84.6%, specificity was 100%, PPV was 100%, and NPV was 84.6% when MPV/PLTx105 was 3.3. Expression of PLT surface markers which were not in the GPIb-V-IX receptor complex (CD61, CD41a) increased as the surface area increased, but markers which were in a complex (CD42a, CD42b) did not change.CONCLUSIONS:
High MPV/PLT value can be a good predictor for the diagnosis of 22q11.2 deletion syndrome. We suggest that in patients with facial dysmorphism and retardation in neurodevelopmental milestones and if MPV≥8.6fl, MPV/PLTx105 ratio≥3.3 and PLT count ≤265,500/mm3, the patients should be tested by FISH analysis to confirm the 22q11.2 deletion. If there are no macrothrombocytes, the 10p13 deletion should be tested in suspected cases.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Contagem de Plaquetas
/
Plaquetas
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Síndrome de DiGeorge
/
Volume Plaquetário Médio
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
Limite:
Adolescent
/
Adult
/
Child
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Child, preschool
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Female
/
Humans
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Infant
/
Male
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article