الفهرس 
Immune Thrombocytopenia (ITP)Only 14 pages are availabe for public view
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Abstract
Immune thrombocytopenia is an autoimmune disorder caused by
antiplatelet antibodies resulting from various etiologies that is characterized
by increased platelet destruction and impaired production leading to a
decrease in the platelet count. It is the most common cause of acquired
thrombocytopenia in children of any age but with a peak occurrence between
2 and 5 years of age.
According to the latest guidelines from American Society of
Hematology, ITP is clinically classified into three types newly diagnosed
(for all cases at diagnosis), persistent (for cases with ITP lasting between 3–
12 mo from diagnosis, spontaneous remission not achieved after the removal
of treatment in between 3–12 mo from diagnosis), and chronic ITP (lasting
for more than 12 mo)
Immune thrombocytopenia is caused by autoantibodies against
glycoproteins (GP) IIb/IIIa and GPIb/IX found in the platelet membrane.
Interleukin-1B and Interleukin -1 Receptor antagonist are found on
chromosome 2q14. IL-1 beta (IL-1β) is a proinflammatory cytokine released
by macrophages in systemic inflammatory responses and regulates
inflammatory reactions and immune responses by promoting cytokines such
as IL-6 and IL-12
Genetic polymorphism of the cytokine genes is known to be linked
with ITP etiopathogenesis. In addition, the majority of the autoimmune
diseases including ITP are linked with abnormal functioning of T cells and
cytokines as they contribute significantly to disease pathogenesis and
Cytokines are not only associated with etiogenesis but also associated with
severity and chronicity of immumne thrombocytopenia
Summary
102
The aim of this work was to study the association between
Interleukin-1B and Interleukin-1 receptor antagonist gene polymorphisms
development and severity of primary immune thrombocytopenia in children.
Our study was performed on 50 pediatric patients who are diagnosed
as ITP and on treatment and follow up in the Hematology and Oncology Unit
of the Pediatric department at Menoufia University Hospitals. The study was
done over the period from August 2022 to September 2023. Also, the study
included 50 healthy children with matched age and sex as a control group.
All patients were subjected to the following after taking
informed consent:
1. Detailed history taking.
2. Full clinical examination.
3. Hematological investigation including CBC and platelet indices.
4. Genetic molecular study:
A- Examination of Interleukin -1 Receptor antagonist by variable time
number repeats (VTNR) method.
B- Genotyping of Interleukin -1B rs16944 polymorphism by real time
PCR
Results showed that:
1. Almost all cases presented with skin bleeding (100%), followed by
oral bleeding (92%), while only 8% presented with epistaxis.
2. The clinical grade of overall bleeding was moderate degree (grade 3)
in most of the cases (92%)
3. There was significant difference between patients and control
regarding platelet count as it was decreased in patients as well as
between studied periods (at presentation, at 7 days and at 1 month).
Summary
103
4. Regarding plateletcrit, there was significant difference between
patients and control as well as at different periods in patients as it was
decreased at 1 month more than at presentation and at 7 days.
5. Almost all cases (98%) received steroids treatment, the majority
(80%) responds to prednisolone. Also, thrombopoietin receptor
agonist (TPO-RA) was used in 76%, IVIG in 12% while no cases
received Anti –Rh D treatment
6. There was a significant increase of rs16944 of IL1B mutant
homozygous GG genotype and mutant G allele in cases than in control
group with p value (<0.001). Also, ITP cases have risk of about 4.6
times more higher than control to carry mutant allele.
7. ITP cases presented with overall moderate to severe (grade 3-4)
bleeding are significantly associated with increase of heterozygous
AG (22/50) and mutant homozygous GG (18/50) genotype compared
with cases carrying wild homozygous AA (8/50), Also, all cases
presented with epistaxis (1-4) carried the mutant homozygous (GG)
genotype of rs16944 of IL1B polymorphism.
8. There was a significant increase of heterozygous and mutant
homozygous genotypes and mutant II allele of IL-1R antagonist
polymorphism in cases than in control group with p value (<0.001),
Moreover ITP cases have risk of about 6.3 times more than control to
carrying the mutant allele than healthy children.
9. ITP cases presented with epistaxis (grade 1-4) are significantly
associated with increase of mutant homozygous (II/II) genotype of IL-
1RA polymorphism.