Báo cáo loạt ca mắc bệnh liệt tiểu cầu Glanzmann=Case series report of patients with Glanzmann thrombasthenia

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Tác giả: Thị Tuệ Ngọc Hoàng, Minh Tuấn Nguyễn, Phương Liên Nguyễn, Nguyễn Liên Anh Phan, Tú Bích Trương

Ngôn ngữ: vie

Ký hiệu phân loại:

Thông tin xuất bản: Tạp chí Y học Việt Nam (Tổng hội Y học Việt Nam), 2024

Mô tả vật lý: tr.94-102

Bộ sưu tập: Metadata

ID: 478218

Thêm vào giỏ

Bệnh giảm chức năng tiểu cầu Glanzmann (GT) là nhóm bệnh hiếm, di truyền lặn trên nhiễm sắc thể thường, do giảm số lượng hay chức năng glycoprotein (GP) IIb/IIIa (CD41a/CD61) của tiểu cầu. Mục tiêu của nghiên cứu mô tả các phân nhóm bệnh nhân GT dựa trên định lượng gp bề mặt tiểu cầu và mối liên quan với mức độ xuất huyết. Đối tượng và phương pháp nghiên cứu: Nghiên cứu cắt ngang, mô tả, thực hiện tại bệnh viện Nhi đồng 1 từ tháng 3/2021 đến 3/2023. Đối tượng là các bệnh nhân được chẩn đoán Glanzamann có đầy đủ thông tin lâm sàng, kết quả phân tích chức năng tiểu cầu PFA-100 và kết quả phân tích dòng chảy tế bào của tiểu cầu, đang điều trị và theo dõi tại đây. Kết quả: 18 bệnh nhân từ 17 gia đình mắc Glanzmann dựa trên kết quả PFA-100 và kết quả phân tích dòng chảy tế bào gp CD41a, CD61. 12 ca thuộc GT loại I (66,7%), 2 ca GT loại II (11,1%) và 4 ca GT loại III (22,2%). Giải trình tự toàn bộ exome ở 2 ca phát hiện một ca đột biến đồng hợp tử c.1946+1G>
A trên gen ITGA2B và một ca đột biến đồng hợp tử c.2112delC:p.L705Cfs*3 của gen ITGB3. Nhóm GT loại II và III có tỷ lệ chảy máu nặng thấp hơn GT loại I. Tỷ lệ truyền tiểu cầu lên đến 61,1% số ca. Kết luận: GT loại I phổ biến nhất. Phân tích dòng chảy tế bào là phương pháp nhạy nhất để xác định các phân nhóm GT
đặc biệt là GT loại III và cần thực hiện trước khi truyền tiểu cầu. Phân tích gen giúp xác định các trường hợp di truyền hay mắc phải.Glanzmann thrombasthenia (GT) is a rare, inherited autosomal recessive disorder characterized by qualitative or quantitative deficiency of glycoprotein (gp) IIb/IIIa (CD41a/CD61). The objective of this study was to classify GT patients based on quantitate platelet surface gp and relate with the severity of bleeding. Method: This cross-sectional study was conducted at Children’s Hospital 1 from 03/2021 to 03/2023. All Glanzamann patients had full details of clinical, results of platelet function analyzer (PFA-100) and flow cytometry and received treatment, following at here. Results: 18 GT patients from 17 unrelated families whose results from the platelet function analyzer and flow cytometry of gp CD41a and CD61. Out of the 17 patients, 12 (66.7%) were consistent with type I GT, 2 (11.1%) with type II GT, and 4 (22.2%) with type III GT. One case with homozygous mutations of c.1946+1G>
A of the ITGA2B gene and one case with c.2112delC:p.L705Cfs*3 of the ITGB3 gene are identified by WES analysis. Compared to type I GT patients, fewer type II and III patients experienced severe bleeding. Up to 61.1% of cases involve platelet transfusions. Conclusion: Type I GT patients made up the largest subgroup. Flow cytometry is the most sensitive method for determining the GT subgroups, particularly for GT type III, and should should perform before platelet transfusion. Diagnosing acquired or congenital platelet disorders can be aided by gene analysis.

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