塞尔维亚肢带肌无力患者Pompe病的筛查

IF 1.8 4区医学 Q3 CLINICAL NEUROLOGY

Clinical Neurology and Neurosurgery Pub Date : 2025-05-07 DOI:10.1016/j.clineuro.2025.108950

Aleksandar Sekulic , Vanja Viric , Teodora Todorovic , Jovan Pesovic , Marija Brankovic , Nikola Andrejic , Aleksa Palibrk , Ivo Bozovic , Vukan Ivanovic , Ivana Basta , Stojan Peric

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引用次数: 0

摘要

迟发性庞培病（LOPD）患者既存在于四肢带肌无力的个体中，也存在于孤立的躯干和呼吸肌无力的个体中。一些无症状高血病患者可能患有庞贝病。本研究的目的是分析塞尔维亚患有不明原因的肢带肌无力，和/或呼吸肌无力和/或高血氧症的LOPD患者的频率。方法采用串联质谱法测定干血斑的酸性α -葡萄糖苷酶（GAA）活性。在发现酶活性降低的患者中，从干血斑中分离DNA并对GAA基因进行测序。结果在4.5年的时间里，138例疑似LOPD患者被送去分析。检测时的平均年龄为44.3 ± 15.7岁，症状持续时间为7.3 ± 7.6年。平均GAA活性为4.6 ± 1.9 umol/L/h。10例（7 %）患者观察到酶活性降低。对这10例患者进行GAA基因的遗传分析，其中4例（3 %）诊断为LOPD。结论：在塞尔维亚队列中，138例患有肢带肌无力和/或呼吸肌无力和/或高血血症的患者中，3 %的患者遗传上证实LOPD。所有确诊的患者都接受了酶替代治疗，这改变了疾病的进程。

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Screening for Pompe disease in Serbian patients with limb-girdle muscle weakness

Introduction/aims

Patients with late-onset Pompe disease (LOPD) can be found among individuals with limb-girdle muscle weakness, as well as among individuals with isolated weakness of trunk and respiratory muscles. Some patients with asymptomatic hyperCKemia may have Pompe disease. Aim of this research was analysis of the frequency of LOPD among Serbian patients with unexplained limb-girdle muscle weakness, and/or respiratory muscle weakness, and/or hyperCKemia.

Methods

Analysis of acid alpha-glucosidase (GAA) activity was performed using tandem mass spectrometry in a sample of a dry blood spot. In patients who were found to have decreased enzyme activity, DNA was isolated from a dry blood spot and sequencing of the GAA gene was performed.

Results

During a 4.5-year period, 138 patients suspected of having LOPD were sent for the analysis. The average age at the time of testing was 44.3 ± 15.7 years, and symptoms duration was 7.3 ± 7.6 years. Mean GAA activity was 4.6 ± 1.9 umol/L/h. Decreased enzyme activity was observed in 10 (7 %) patients. Genetic analysis of the GAA gene was performed in these ten, and four (3 %) were diagnosed with LOPD.

Conclusion

In the Serbian cohort of 138 patients with limb-girdle muscle weakness and/or respiratory muscle weakness and/or hyperCKemia, 3 % had genetically confirmed LOPD. All diagnosed patients received enzyme replacement therapy which alters the course of the disease.

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来源期刊

Clinical Neurology and Neurosurgery 医学-临床神经学

CiteScore

3.70

自引率

5.30%

发文量

358

审稿时长

46 days

期刊介绍： Clinical Neurology and Neurosurgery is devoted to publishing papers and reports on the clinical aspects of neurology and neurosurgery. It is an international forum for papers of high scientific standard that are of interest to Neurologists and Neurosurgeons world-wide.