مراجعة
A Rare Case with Pulmonary Embolism and Literature Review.
العنوان: | A Rare Case with Pulmonary Embolism and Literature Review. |
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المؤلفون: | Liao J, Wu Z |
المصدر: | Clinical laboratory [Clin Lab] 2023 Dec 01; Vol. 69 (12). |
نوع المنشور: | Review; Case Reports |
اللغة: | English |
بيانات الدورية: | Publisher: Clinical Laboratory Publications Country of Publication: Germany NLM ID: 9705611 Publication Model: Print Cited Medium: Internet ISSN: 1433-6510 (Print) Linking ISSN: 14336510 NLM ISO Abbreviation: Clin Lab Subsets: MEDLINE |
أسماء مطبوعة: | Publication: 2010- : Mainz : Clinical Laboratory Publications Original Publication: Heidelberg : Verlag Klinisches Labor, [1997- |
مواضيع طبية MeSH: | Thrombophilia*/diagnosis , Pulmonary Embolism*/diagnosis , Pulmonary Embolism*/genetics , Thrombosis*/diagnosis , Thrombosis*/genetics , Antiphospholipid Syndrome*/drug therapy , Protein S Deficiency*/complications , Protein S Deficiency*/diagnosis , Protein S Deficiency*/genetics, Child ; Humans ; Anticoagulants/therapeutic use |
مستخلص: | Background: Pulmonary embolism is rare in children, and most of them have high-risk factors, such as antiphospholipid syndrome, intravenous catheterization, fracture bed rest, etc. For children with pulmonary embolism without clear inducement, hereditary thrombophilia should be considered. Genetic protein S deficiency (PSD) is a kind of thrombophilia, which is caused by the mutation of PROS 1 gene, resulting in an increased tendency to thrombosis. Methods: The diagnosis of the two cases was made after detecting based on Thrombophilia screening and Sanger sequencing in clinical laboratory. Results: Sanger sequencing found that case 2 and case 1 genotypes were the same, case 1 sister and grandfather carried c.200a>c (p.e67a) mutation, and case 1 aunt and grandmother did not carry PROS1 gene mutation. Case 1 received anticoagulation therapy for 3 months, and case 2 also received anticoagulation therapy for 3 months. During the 1 year follow-up, no new thrombotic events and no adverse reactions such as bleeding were observed in both patients. Conclusions: For children with pulmonary embolism without clear risk factors, PSD should be considered, and protein S activity should be tested before receiving anticoagulant drugs. |
المشرفين على المادة: | 0 (Anticoagulants) |
تواريخ الأحداث: | Date Created: 20231212 Date Completed: 20231216 Latest Revision: 20231216 |
رمز التحديث: | 20231217 |
DOI: | 10.7754/Clin.Lab.2023.230629 |
PMID: | 38084685 |
قاعدة البيانات: | MEDLINE |
تدمد: | 1433-6510 |
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DOI: | 10.7754/Clin.Lab.2023.230629 |