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一名患有X连锁高IgM免疫缺陷且CD40LG基因存在新型半合子致病变异的患者出现获得性肾淀粉样变性。

Acquired Renal Amyloidosis in a Patient With X-Linked Hyper-IgM Immunodeficiency With Novel Hemizygotic Pathogenic Variant in CD40LG Gene.

作者信息

Celis-Giraldo Daniel, García-Villamizar Deider Steeven, Parra-Amaris Camilo, Gutiérrez-González Diana Carolina, Rodríguez-Peralta Daniel

机构信息

Internal Medicine Program, Universidad Militar Nueva Granada, Bogotá, Colombia.

Department of Internal Medicine, Hospital Militar Central, Bogotá, Colombia.

出版信息

Case Rep Nephrol. 2025 Sep 2;2025:6664645. doi: 10.1155/crin/6664645. eCollection 2025.

DOI:10.1155/crin/6664645
PMID:40933814
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12419936/
Abstract

Renal AA amyloidosis with X-linked hyper-IgM immunodeficiency is rare diseases, and their simultaneous presentation in the same patient is exceptional. We present a case of renal AA amyloidosis in a 20-year-old man with nephrotic syndrome and reduced glomerular filtration rate (GFR). Clinically, serologically, histopathological, and genetically, we confirm renal amyloidosis in the presence of X-linked hyper-IgM syndrome; in turn, we detected a new hemizygous pathogenic variant in the CD40L gene (c.345delA). Our hypothesis suggests that these conditions predisposed the patient to a combined (cellular and humoral) immunodeficiency, leading to recurrent infectious episodes throughout his life, ultimately resulting in renal amyloidosis due to deposition of serum amyloid protein.

摘要

伴有X连锁高IgM免疫缺陷的肾AA型淀粉样变性是罕见疾病，二者同时出现在同一患者身上的情况更是罕见。我们报告一例20岁男性肾AA型淀粉样变性病例，该患者患有肾病综合征且肾小球滤过率（GFR）降低。通过临床、血清学、组织病理学和遗传学检查，我们确诊该患者在患有X连锁高IgM综合征的情况下发生了肾淀粉样变性；反过来，我们在CD40L基因中检测到一个新的半合子致病变异（c.345delA）。我们的假设表明，这些情况使患者易患联合（细胞和体液）免疫缺陷，导致其一生中反复发生感染，最终因血清淀粉样蛋白沉积而导致肾淀粉样变性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b287/12419936/5ff0119062f6/CRIN2025-6664645.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b287/12419936/a5c27cd49798/CRIN2025-6664645.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b287/12419936/7fe91d9517ba/CRIN2025-6664645.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b287/12419936/5ff0119062f6/CRIN2025-6664645.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b287/12419936/a5c27cd49798/CRIN2025-6664645.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b287/12419936/7fe91d9517ba/CRIN2025-6664645.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b287/12419936/5ff0119062f6/CRIN2025-6664645.003.jpg

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