Giá trị của phương pháp khối phổ đôi trong sàng lọc bệnh thiếu citrin ở trẻ 0 - 6 tháng tuổi=Value of tandem mass spectrometry in screening for citrin deficiency in children aged 0

Giá trị của phương pháp khối phổ đôi trong sàng lọc bệnh thiếu citrin ở trẻ 0 - 6 tháng tuổi=Value of tandem mass spectrometry in screening for citrin deficiency in children aged 0 - 6 months

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Tác giả: Kiều Hoài Linh Nguyễn, Phạm Anh Hoa Nguyễn, Thị Chi Mai Trần

Ngôn ngữ: vie

Ký hiệu phân loại:

Thông tin xuất bản: Tạp chí Nghiên cứu y học (Đại học Y Hà Nội), 2024

Mô tả vật lý: tr.118-128

Bộ sưu tập: Báo, Tạp chí

ID: 244741

Thêm vào giỏ

Bệnh thiếu citrin là một rối loạn chuyển hóa di truyền lặn trên nhiễm sắc thể thường do đột biến gen SLC25A13 gây ảnh hưởng đến nhiều quá trình chuyển hóa chất như đường phân, tổng hợp glucose, chuyển hóa acid amin, chu trình urê và chuyển hóa lipid. Phân tích khối phổ đôi (MS/MS) là một công cụ tốt để sàng lọc trẻ sơ sinh trong đó bệnh thiếu citrin, tuy nhiên độ nhạy và độ đặc hiệu của sàng lọc MS/MS không cao và có thể gặp nhiều trường hợp âm tính giả, dương tính giả. Sàng lọc sơ sinh và sàng lọc nguy cơ cao bằng phương pháp MS/MS được thực hiện tại Bệnh viện Nhi Trung ương từ năm 2018 cho thấy tỷ lệ trẻ có kết quả sàng lọc nghi ngờ bệnh thiếu citrin tương đối cao, đặc biệt là ở nhóm từ 0 - 6 tháng. Nghiên cứu hồi cứu số liệu từ tháng 01/2018 đến tháng 05/2024 nhằm đánh giá giá trị của phương pháp MS/MS trong sàng lọc bệnh thiếu citrin ở nhóm từ 0 - 6 tháng. Kết quả cho thấy: Citrullin trong mẫu máu thấm khô trong sàng lọc bệnh thiếu citrin ở nhóm bệnh nhi nguy cơ cao từ 0 đến 6 tháng tuổi có độ nhạy, độ đặc hiệu, giá trị dự báo dương tính, âm tính lần lượt là 100%, 99,5%, 82,9%, 100%. Sự kết hợp giữa các chỉ số Cit, Cit/Lys và Cit/Ser có độ nhạy, độ đặc hiệu, giá trị dự báo dương tính, âm tính lần lượt là 98,9%, 99,7%, 87,5%, 100%. So với việc sử dụng chỉ số Cit đơn lẻ, sự kết hợp này làm giảm độ nhạy, tuy nhiên cải thiện độ đặc hiệu và giá trị dự báo dương tính trong việc phát hiện bệnh thiếu citrin bằng phương pháp MS/MS.Citrin deficiency is an autosomal recessive metabolic disorder caused by mutations in the SLC25A13 gene, affecting various metabolic processes such as glycolysis, glucose synthesis, amino acid metabolism, the urea cycle, and lipid metabolism. Tandem mass spectrometry (MS/MS) is a useful tool for newborn screening
however, the sensitivity and specificity of MS/MS screening are not high, leading to numerous false-negative and false-positive cases. Neonatal and high-risk screening using MS/MS has been conducted at the National Children’s Hospital since 2018, revealing a relatively high rate of suspected citrin deficiency cases, especially in the 0 - 6 month age group. A retrospective study of data from January 2018 to May 2024 aimed to evaluate the value of the MS/MS method in screening for citrin deficiency in the 0 - 6 month age group. Results showed that Citrulline levels in dried blood spot samples for citrin deficiency screening in high-risk infants aged 0 to 6 months had sensitivity, specificity, positive predictive value, and negative predictive value of 100%, 99.5%, 82.9%, and 100%, respectively. The combination of Cit, Cit/Lys, and Cit/Ser indices had sensitivity, specificity, positive predictive value, and negative predictive value of 98.9%, 99.7%, 87.5%, and 100%, respectively. Compared to using the Cit index alone, this combination reduces sensitivity but improves specificity and positive predictive value in detecting citrin deficiency using the MS/MS method.

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