inherited platelet disorder
Conditions
Interventions
Inherited Platelet Disorders (IPD) group:none
mmune thrombocytopenia (ITP) group:none
Sponsors
Beijing Childrens Hospital,Capital Medical University
Eligibility
Sex/Gender
All
Age
1 Years to 18 Years
Inclusion criteria
Inclusion criteria: ITP group: 1. Age 50×10?/L after initial treatment with steroids and/or IVIG and maintained for >=4 weeks; 3. for patients with a disease course longer than 6–12 months, whole-exome sequencing must have been performed with no pathogenic/likely pathogenic IPD-related variants identified under ACMG criteria (referencing the ISTH updated list). IPD group: 1. Age =1 item); 2. insensitivity to steroid/IVIG treatment; 3. confirmed by targeted gene panel or whole-exome sequencing (referencing the ISTH updated list), meeting ACMG criteria for pathogenic variants (Pathogenic/Likely Pathogenic); 4. at least one abnormality in platelet aggregation test (when platelet count >100×10?/L) or flow cytometry.
Exclusion criteria
Exclusion criteria: 1.Model Validation Phase (Prospective Diagnostic Trial): Already diagnosed with IPDs (e.g., known pathogenic gene mutations or clear platelet function defects) or already diagnosed with ITP; clearly drug-induced, post-chemotherapy, or infection-related thrombocytopenia; combined congenital coagulation dysfunction; active malignant tumors or undergoing radiotherapy/chemotherapy; severe liver or kidney dysfunction; inability to complete the 6-month follow-up (e.g., residing in another region, refusing regular check-ups). 2.Model Construction Phase (Retrospective Cohort Study): leukemia, aplastic anemia, MDS, or other hematopoietic tumors or failure diseases; secondary thrombocytopenia (drug-induced, infectious, autoimmune diseases such as SLE); history of malignant tumors; long-term immunosuppressive therapy or multi-system immune manifestations; recurrent or severe infections.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| platelet count;AUC;Accuracy; | — |
Countries
China
Contacts
Public ContactZhenping Chen
Beijing Childrens Hospital,Capital Medical University
Outcome results
None listed