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肾活检专栏：淀粉样变性

Kidney Biopsy Corner: Amyloidosis.

作者信息

Biederman Laura E, Dasgupta Alana D, Dreyfus Darren E, Nadasdy Tibor, Satoskar Anjali A, Brodsky Sergey V

机构信息

Department of Pathology, Ohio State Wexner Medical Center, Columbus, OH, USA.

Department of Pathology, Nationwide Children's Hospital, Columbus, OH, USA.

出版信息

Glomerular Dis. 2023 Sep 8;3(1):165-177. doi: 10.1159/000533195. eCollection 2023 Jan-Dec.

DOI:10.1159/000533195
PMID:37901698
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10601942/
Abstract

Amyloidosis is an infiltrative disease caused by misfolded proteins depositing in tissues. Amyloid infiltrates the kidney in several patterns. There are, as currently described by the International Society of Amyloidosis, 14 types of amyloid that can involve the kidney, and these types may have different locations or clinical settings. Herein we report a case of AA amyloidosis occurring in a 24-year-old male with a history of intravenous drug abuse and provide a comprehensive review of different types of amyloids involving the kidney.

摘要

淀粉样变性是一种由错误折叠的蛋白质沉积在组织中引起的浸润性疾病。淀粉样物质以多种模式浸润肾脏。正如国际淀粉样变性协会目前所描述的，有14种类型的淀粉样物质可累及肾脏，这些类型可能有不同的部位或临床情况。在此，我们报告一例发生在一名有静脉药物滥用史的24岁男性身上的AA型淀粉样变性病例，并对累及肾脏的不同类型淀粉样物质进行全面综述。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df39/10601942/aeec3696d438/gdz-2023-0003-0001-533195_F10.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df39/10601942/d25908564de7/gdz-2023-0003-0001-533195_F01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df39/10601942/29b93e293fe4/gdz-2023-0003-0001-533195_F02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df39/10601942/c5aec80465b8/gdz-2023-0003-0001-533195_F03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df39/10601942/9fb833bef4b4/gdz-2023-0003-0001-533195_F04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df39/10601942/48c1911053f6/gdz-2023-0003-0001-533195_F05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df39/10601942/c69be164808c/gdz-2023-0003-0001-533195_F06.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df39/10601942/f06d8dc698f7/gdz-2023-0003-0001-533195_F07.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df39/10601942/4fd959f44fc9/gdz-2023-0003-0001-533195_F08.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df39/10601942/4d2438bd0698/gdz-2023-0003-0001-533195_F09.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df39/10601942/aeec3696d438/gdz-2023-0003-0001-533195_F10.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df39/10601942/d25908564de7/gdz-2023-0003-0001-533195_F01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df39/10601942/29b93e293fe4/gdz-2023-0003-0001-533195_F02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df39/10601942/c5aec80465b8/gdz-2023-0003-0001-533195_F03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df39/10601942/9fb833bef4b4/gdz-2023-0003-0001-533195_F04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df39/10601942/48c1911053f6/gdz-2023-0003-0001-533195_F05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df39/10601942/c69be164808c/gdz-2023-0003-0001-533195_F06.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df39/10601942/f06d8dc698f7/gdz-2023-0003-0001-533195_F07.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df39/10601942/4fd959f44fc9/gdz-2023-0003-0001-533195_F08.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df39/10601942/4d2438bd0698/gdz-2023-0003-0001-533195_F09.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df39/10601942/aeec3696d438/gdz-2023-0003-0001-533195_F10.jpg

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1
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本文引用的文献

1
Pathological spectrum of hereditary transthyretin renal amyloidosis and clinicopathologic correlation: a French observational study.遗传性转甲状腺素蛋白肾淀粉样变性的病理谱及临床病理相关性：一项法国观察性研究。
Nephrol Dial Transplant. 2023 Aug 31;38(9):2019-2030. doi: 10.1093/ndt/gfad006.
2
Renal AA amyloidosis: presentation, diagnosis, and current therapeutic options: a review.肾型AA淀粉样变性：临床表现、诊断及当前治疗选择：综述
Kidney Int. 2023 Mar;103(3):473-484. doi: 10.1016/j.kint.2022.10.028. Epub 2022 Dec 9.
3
Amyloid nomenclature 2022: update, novel proteins, and recommendations by the International Society of Amyloidosis (ISA) Nomenclature Committee.
淀粉样变命名 2022：更新、新型蛋白质以及国际淀粉样变性学会（ISA）命名委员会的建议。
Amyloid. 2022 Dec;29(4):213-219. doi: 10.1080/13506129.2022.2147636. Epub 2022 Nov 24.
4
Clinicopathologic and proteomic characteristics of intratubular cytoplasmic AL amyloidosis.肾小管内细胞质型AL淀粉样变性的临床病理及蛋白质组学特征
Kidney Int. 2022 Oct;102(4):926-929. doi: 10.1016/j.kint.2022.07.020. Epub 2022 Aug 11.
5
RNA-targeting and gene editing therapies for transthyretin amyloidosis.针对转甲状腺素蛋白淀粉样变性的 RNA 靶向和基因编辑疗法。
Nat Rev Cardiol. 2022 Oct;19(10):655-667. doi: 10.1038/s41569-022-00683-z. Epub 2022 Mar 23.
6
The Clinical Impact of Proteomics in Amyloid Typing.蛋白质组学在淀粉样蛋白分型中的临床影响
Mayo Clin Proc. 2021 May;96(5):1122-1127. doi: 10.1016/j.mayocp.2020.12.002. Epub 2021 Apr 9.
7
Two kinds of rare light chain cast nephropathy caused by multiple myeloma: case reports and literature review.两种由多发性骨髓瘤引起的罕见轻链 casts 肾病：病例报告和文献复习。
BMC Nephrol. 2021 Jan 28;22(1):42. doi: 10.1186/s12882-021-02250-z.
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DNAJB9-positive monotypic fibrillary glomerulonephritis is not associated with monoclonal gammopathy in the vast majority of patients.在绝大多数患者中，DNAJB9阳性单型纤维性肾小球肾炎与单克隆丙种球蛋白病无关。
Kidney Int. 2020 Aug;98(2):498-504. doi: 10.1016/j.kint.2020.02.025. Epub 2020 Mar 28.
9
An Organ System-Based Approach to Differential Diagnosis of Amyloid Type in Surgical Pathology.基于器官系统的外科病理学中淀粉样变类型鉴别诊断方法。
Arch Pathol Lab Med. 2020 Mar;144(3):379-387. doi: 10.5858/arpa.2018-0509-RA. Epub 2019 Nov 7.
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A novel mutation in a patient with renal amyloidosis: unveiling amyloid by next-generation sequencing.一名肾淀粉样变性患者的新型突变：通过下一代测序揭示淀粉样蛋白
Amyloid. 2019 Dec;26(4):253-254. doi: 10.1080/13506129.2019.1660157. Epub 2019 Sep 4.