Báo cáo trường hợp nhược cơ bẩm sinh do đột biến gen COLQ: đáp ứng tốt thuốc Salbutamol

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Tác giả: Ngọc Triệu Hoàng

Ngôn ngữ: vie

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Thông tin xuất bản: Tạp chí Y Dược học Phạm Ngọc Thạch, 2023

Mô tả vật lý: tr.199

Bộ sưu tập: Metadata

ID: 339219

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Các hội chứng nhược cơ bẩm sinh là một nhóm rối loạn hiếm gặp, không đồng nhất về kiểu gen và kiểu hình, gây ra bởi đột biến trong các gen mã hóa các protein khác nhau biểu lộ tại tiếp hợp thần kinh - cơ (synap). Các dạng nhược cơ bẩm sinh hay gặp:● Thiếu thụ thể acetylcholine (AChR) nguyên phát: thường gặp nhất, gây ra bởi đột biến di truyền lặn ở bất kỳ gen mã hoá tiểu đơn vị AChR (CHRNA, CHRNB, CHRND hoặc CHRNE)
hầu hết xảy ra trong tiểu đơn vị epsilon (CHRNE)● Các đột biến gen RAPSN, gây suy giảm khả năng phân cụm AChR● Các đột biến gen COLQ, dẫn đến thiếu acetylcholinesterase ở màng tận cùng● Các đột biến gen DOK7, làm bất thường sự trưởng thành và duy trì tại synap ● Các đột biến gen CHAT, gây khiếm khuyết acetyltransferase tiền synap ● Hội chứng kênh nhanh với việc mở nhanh kênh AChR, gây ra do đột biến trong các gen mã hóa tiểu đơn vị AChR (CHRNA, CHRNB, CHRND hoặc CHRNE)● Hội chứng kênh chậm với thời gian mở kênh AChR kéo dài, cũng do đột biến trong các gen mã hoá tiểu đơn vị AChR (CHRNA, CHRNB, CHRND hoặc CHRNE). Chúng tôi báo cáo trường hợp bệnh nhân nam 11 tuổi, lé mắt lúc nhỏ, khoảng 1 năm mỏi tay tăng lên sau khi viết, yếu 2 chân, té sau khi đi bộ 150m, nuốt khó, khó thở trong đợt bệnh sốt, test kích thích thần kinh lặp lại tần số 2Hz dương tính ở cơ gốc chi và ngọn chi
kháng thể kháng thụ thể acetylcholine và kháng thể kháng MusK âm tính, xét nghiệm gen ghi nhận đột biến gen COLQ. Bệnh nhân uống Salbutamol 3 tuần đáp ứng rõ rệt, viết bài 10 phút không mỏi tay, đi lại trên 150m không mỏi và không yếu. Nhược cơ bẩm sinh là bệnh lý hiếm gặp gây ảnh hưởng nhiều đến chức năng vận động và hô hấp, điều trị dựa trên kết quả xét nghiệm gen giúp cải thiện rõ rệt triệu chứng.Abstract Congenital myasthenic syndromes are rare disorders, heterogeneous in genotype and phenotype, caused by mutations in genes encoding different proteins expressed at the neuromuscular junction (synaptic). Most common type of congenital myasthenic syndromes:● Primary acetylcholine receptor (AChR) deficiency, the most frequent type, is caused by recessive pathologic variants in any of the AChR subunit genes (CHRNA, CHRNB, CHRND, or CHRNE)
most occur in the epsilon subunit (CHRNE) RAPSN genetic variants, causing impaired clustering of AChR.● COLQ genetic variants, leading to endplate acetylcholinesterase deficiency● DOK7 genetic variants, resulting in aberrant synaptic maturation and maintenance● CHAT genetic variants, causing presynaptic defects in acetyltransferase● Fast channel syndrome with abbreviated AChR channel opening, caused by variants in the AChR subunit genes (CHRNA, CHRNB, CHRND, or CHRNE)● Slow channel syndrome with prolonged AChR channel opening, also caused by variants in the AChR subunit genes (CHRNA, CHRNB, CHRND, or CHRNE) We report a case of an 11 - year - old male patient with strabismus when he was an infant. Since 2021, his hands have become fatigued during his writing and his lower limbs have become weak after walking 150m. In one episode of fever on October 2022, he felt difficulty swallowing and difficulty breathing. Repetitive nerve stimulation at a low frequency (2 Hz) shows a decremental response in proximal and distal muscles. Anti-acetylcholine receptor antibody and anti-MusK antibody were negative, the gene test noted mutations in the COLQ gene. He has taken Salbutamol for 3 weeks. The symptoms are improved clearly. He writes 10 minutes without fatigue, walking over 150m without fatigue and weakness. Congenital myasthenia gravis is a rare disease that decreases muscle strength and respiratory function. Treatment of congenital myasthenic syndromes based on genetic test results does improve symptoms significantly. DOI: 10.59715/pntjmp.2.1.25

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