مراجعة

A Rare Case with Pulmonary Embolism and Literature Review.

التفاصيل البيبلوغرافية
العنوان: A Rare Case with Pulmonary Embolism and Literature Review.
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
الوصف
تدمد:1433-6510
DOI:10.7754/Clin.Lab.2023.230629