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黏多糖贮积症的咽扁桃体病理学——溶酶体贮积主要见于副皮质区 CD63+细胞。

Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells.

机构信息

Department of Otorhinolaryngology, 3rd Faculty of Medicine, Charles University and University Hospital Kralovske Vinohrady in Prague, Prague, Czech Republic.

Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 00, Prague 2, Czech Republic.

出版信息

Virchows Arch. 2024 Jan;484(1):135-140. doi: 10.1007/s00428-023-03662-y. Epub 2023 Oct 3.

DOI:10.1007/s00428-023-03662-y
PMID:37787787
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11330409/
Abstract

Despite the adenoids are regularly removed in patients with mucopolysaccharidoses (MPS), the underlying tissue and cellular pathologies remain understudied. We characterized an (immuno)histopathologic and ultrastructural phenotype dominated by lysosomal storage changes in a specific subset of adenotonsillar paracortical cells in 8 MPS patients (3 MPS I, 3 MPS II, and 2 MPS IIIA). These abnormal cells were effectively detected by an antibody targeting the lysosomal membrane tetraspanin CD63. Important, CD63+ storage vacuoles in these cells lacked the monocytes/macrophages lysosomal marker CD68. Such a distinct patterning of CD63 and CD68 was not present in a patient with infantile neurovisceral variant of acid sphingomyelinase deficiency. The CD63+ storage pathology was absent in two MPS I patients who either received enzyme-replacement therapy or underwent hematopoietic stem cells transplantation prior the adenoidectomy. Our study demonstrates novel features of lysosomal storage patterning and suggests diagnostic utility of CD63 detection in adenotonsillar lymphoid tissue of MPS patients.

摘要

尽管在黏多糖贮积症（MPS）患者中经常会切除腺样体，但潜在的组织和细胞病理学仍未得到充分研究。我们在 8 名 MPS 患者（3 名 MPS I、3 名 MPS II 和 2 名 MPS IIIA）的特定亚群咽扁桃体副皮质细胞中，对（免疫）组织病理学和超微结构表型进行了特征描述，这些表型主要由溶酶体贮积改变引起。一种针对溶酶体膜四跨膜蛋白 CD63 的抗体可有效检测到这些异常细胞。重要的是，这些细胞中的 CD63+贮积空泡缺乏单核细胞/巨噬细胞溶酶体标志物 CD68。在患有酸性鞘磷脂酶缺乏症婴儿神经内脏变异型的患者中，不存在 CD63 和 CD68 的这种明显模式。在两名 MPS I 患者中，CD63+贮积病变不存在，这两名患者在腺样体切除术之前接受了酶替代治疗或进行了造血干细胞移植。我们的研究表明了溶酶体贮积模式的新特征，并提示在 MPS 患者的咽扁桃体淋巴组织中检测 CD63 具有诊断效用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b37b/11330409/e6062653a9eb/428_2023_3662_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b37b/11330409/a43fb01ff24e/428_2023_3662_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b37b/11330409/e6062653a9eb/428_2023_3662_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b37b/11330409/a43fb01ff24e/428_2023_3662_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b37b/11330409/e6062653a9eb/428_2023_3662_Fig2_HTML.jpg

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