Muscle biochemical and pathological diagnosis in Pompe disease
Muscle biochemical and pathological diagnosis in Pompe disease
复制标题
庞贝病肌肉生化及病理诊断
DOI：
10.1136/jnnp-2022-329085
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发表时间：
2022
期刊：
影响因子：
--
通讯作者：
Nishino Ichizo
中科院分区：
文献类型：
--
作者：
Saito Yoshihiko;Nakamura Kimitoshi;Fukuda Tokiko;Sugie Hideo;Hayashi Shinichiro;Noguchi Satoru;Nishino Ichizo
背景和目的据报道，庞贝氏症在日本的发病率低于邻国，这增加了一些患者被忽视的可能性。因此，在我们研究所收到的所有肌肉活检样本进行筛查庞贝氏症，以确定疾病患病率的准确性。MethodsThe酸性α-葡萄糖苷酶（GAA）活性测定使用10 µm冷冻肌肉切片从2408肌肉活检2015年7月至2018年1月之间收到。对活性降低的样品进行遗传分析。myopathologically诊断的患者人数进行了回顾性assessed.ResultsThe GAA活性分布类似于以前的结果从干血斑筛选。使用肌肉切片测量的GAA活性对应于使用肌肉块测量的GAA活性。在163例GAA活性<3 nmol/h/mg蛋白的患者中，43例（26%）患者具有GAA纯合假缺陷等位基因（p.G576S和p.E689K）。在回顾性分析中，通过肌肉活检诊断为庞贝氏症的患者数量随着时间的推移减少到零。DiscussionMuscle病理学是一种准确的方法来诊断庞贝氏症。这是不可能的，大量的患者与庞贝氏症被忽视。病理变异是罕见的，大多数携带一个假缺陷等位基因，这进一步支持了我们的结论。
Background and objectivesPompe disease is reportedly less prevalent in Japan than in neighbouring countries, raising a possibility that some patients may be overlooked. Therefore, all muscle biopsy samples received at our institute were screened for Pompe disease to determine the accuracy of the disease prevalence.MethodsThe acid α-glucosidase (GAA) activity was assayed using 10 µm frozen muscle sections from 2408 muscle biopsies received between July 2015 and January 2018. Genetic analysis was performed for samples with decreased activity. The number of myopathologically diagnosed patients was retrospectively assessed.ResultsThe GAA activity was distributed similarly to previous results from dried blood spot screening. GAA activity measured using muscle sections corresponded to that measured using muscle blocks. Of 163 patients with GAA activity <3 nmol/hour/mg protein, 43 (26%) patients had homozygous pseudodeficiency alleles inGAA(p.G576S and p.E689K). In the retrospective analysis, the number of patients diagnosed with Pompe disease via muscle biopsies decreased to zero over time.DiscussionMuscle pathology is an accurate method to diagnose Pompe disease. It is unlikely that a significant number of patients with Pompe disease are overlooked. Pathological variants were rare, and the majority carried a pseudodeficiency allele, which further supports our conclusion.
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影响因子：
5.1
作者：
Slonim, AE;Bulone, L;Martiniuk, F
通讯作者：
Martiniuk, F
庞贝病和“酸性 α-葡萄糖酶假性缺陷”的结构和生化研究
影响因子：
3.5
作者：
Tajima;Y.;Matswawa;F.;Aikawa;SI.;Okumiya;T.;Yoshimizu;M.;Tsukimura;T.;Ikekita;M;Tsujino;S.;Tsuji;A.;Edmunds;T.;Sakuraba;H
通讯作者：
H
影响因子：
3.8
作者：
Okumiya, T;Keulemans, JLM;Reuser, AJJ
通讯作者：
Reuser, AJJ
影响因子：
3.5
作者：
Tajima, Youichi;Matsuzawa, Fumiko;Sakuraba, Hitoshi
通讯作者：
Sakuraba, Hitoshi