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一名患有隐性营养不良性大疱性表皮松解症的儿童因基因中的一种新型变异而出现肾淀粉样变性。

Renal Amyloidosis in a Child with Recessive Dystrophic Epidermolysis Bullosa Due to a Novel Variant in Gene.

作者信息

Daniel Roshan, Dawman Lesa, Nada Ritambhra, Sekar Aravind, Mahajan Rahul, Tiewsoh Karalanglin

机构信息

Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Department of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

出版信息

Indian J Nephrol. 2024 Jul-Aug;34(4):400-403. doi: 10.4103/ijn.IJN_26_21. Epub 2023 Aug 10.

DOI:10.4103/ijn.IJN_26_21
PMID:39156832
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11328055/
Abstract

Secondary amyloidosis may complicate inherited dermatoses, but recessive dystrophic epidermolysis bullosa (RDEB) complicated by renal amyloidosis is rare. We report a case of a 12-year-old male child with RDEB presenting with progressive generalized anasarca for 20 days. Kidney biopsy showed diffuse expansion of mesangial matrix by pale acellular Periodic Acid-Schiff (PAS)-negative amorphous material, which was congophilic on Congo red stain and gave apple green birefringence on polarization and extending along the glomerular basement membrane, suggestive of amyloidosis. Genetic analysis showed a compound heterozygous pathogenic variant in the gene with autosomal recessive inheritance.

摘要

继发性淀粉样变性可能并发于遗传性皮肤病，但隐性营养不良性大疱性表皮松解症（RDEB）合并肾淀粉样变性则较为罕见。我们报告一例12岁男性儿童，患有RDEB，出现进行性全身性水肿20天。肾脏活检显示，肾小球系膜基质被淡染的无细胞过碘酸希夫（PAS）阴性无定形物质弥漫性扩张，刚果红染色呈嗜刚果红性，偏振光下呈苹果绿双折射，并沿肾小球基底膜延伸，提示淀粉样变性。基因分析显示该基因存在复合杂合致病性变异，呈常染色体隐性遗传。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/600b/11328055/eeb0ec67bb20/IJN-34-4-400-g2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/600b/11328055/d7aa1513606d/IJN-34-4-400-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/600b/11328055/eeb0ec67bb20/IJN-34-4-400-g2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/600b/11328055/d7aa1513606d/IJN-34-4-400-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/600b/11328055/eeb0ec67bb20/IJN-34-4-400-g2.jpg

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本文引用的文献

1
Molecular Therapeutics in Development for Epidermolysis Bullosa: Update 2020.正在开发中的用于大疱性表皮松解症的分子疗法：2020 年更新。
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Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility.遗传性大疱性表皮松解症及其他皮肤脆性疾病的共识性重新分类
Br J Dermatol. 2020 Oct;183(4):614-627. doi: 10.1111/bjd.18921. Epub 2020 Mar 11.
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Epidermolysis bullosa complicated with nephrotic syndrome due to AA amyloidosis: A case report and brief review of literature.
大疱性表皮松解症合并AA型淀粉样变性所致肾病综合征：1例报告及文献简要回顾
Saudi J Kidney Dis Transpl. 2019 Nov-Dec;30(6):1450-1456. doi: 10.4103/1319-2442.275492.
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From Clinical Phenotype to Genotypic Modelling: Incidence and Prevalence of Recessive Dystrophic Epidermolysis Bullosa (RDEB).从临床表型到基因分型建模：隐性营养不良性大疱性表皮松解症（RDEB）的发病率和患病率
Clin Cosmet Investig Dermatol. 2019 Dec 24;12:933-942. doi: 10.2147/CCID.S232547. eCollection 2019.
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Inherited epidermolysis bullosa and the risk of death from renal disease: experience of the National Epidermolysis Bullosa Registry.遗传性大疱性表皮松解症与肾病死亡风险：国家大疱性表皮松解症登记处的经验
Am J Kidney Dis. 2004 Oct;44(4):651-60.
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Colchicine therapy in amyloid nephropathy due to recessive dystrophic epidermolysis bullosa.
Pediatr Nephrol. 2003 Dec;18(12):1311-2. doi: 10.1007/s00467-003-1310-2. Epub 2003 Oct 28.
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The clinical spectrum of dystrophic epidermolysis bullosa.营养不良性大疱性表皮松解症的临床谱
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Renal amyloidosis in recessive dystrophic epidermolysis bullosa.隐性营养不良性大疱性表皮松解症中的肾淀粉样变性
Dermatology. 2000;200(3):209-12. doi: 10.1159/000018384.
10
Recessive dystrophic epidermolysis bullosa complicated with nephrotic syndrome due to secondary amyloidosis.隐性营养不良型大疱性表皮松解症合并继发性淀粉样变性所致肾病综合征。
Int J Dermatol. 2000 Feb;39(2):151-3. doi: 10.1046/j.1365-4362.2000.00904.x.