• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

高磷血症性家族性肿瘤性钙化症中的GALNT3突变——继发性淀粉样变性的新病因

GALNT3 Mutation in Hyperphosphatemic Familial Tumoral Calcinosis - Novel Etiology of Secondary Amyloidosis.

作者信息

Sharma Sourabh, Arora Sahil, Binoy Renju, Agarwal Anupam, Prasad Pallavi, Verma Himanshu

机构信息

Department of Nephrology, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.

出版信息

Indian J Nephrol. 2025 Mar-Apr;35(2):303-305. doi: 10.25259/ijn_534_23. Epub 2024 Jun 24.

DOI:10.25259/ijn_534_23
PMID:40060084
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11883317/
Abstract

Tumoral calcinosis is a rare syndrome characterized by calcium salt deposition in different periarticular soft tissue regions. We report this case of tumoral calcinosis with history of persistent soft tissue calcifications for over three decades. He presented with nephrotic syndrome and kidney biopsy revealed secondary amyloidosis. Genetic evaluation revealed GALNT3 mutation and diagnosis of hyperphosphatemic familial tumoral calcinosis was made. With this case report, we want to reiterate the need to consider tumoral calcinosis in secondary amyloidosis differentials and the pivotal role of genetic workup in chronic soft tissue calcifications.

摘要

肿瘤性钙化是一种罕见综合征，其特征为钙盐沉积于不同的关节周围软组织区域。我们报告了这例有持续三十多年软组织钙化病史的肿瘤性钙化病例。患者表现为肾病综合征，肾脏活检显示继发性淀粉样变性。基因评估发现GALNT3突变，从而诊断为高磷血症性家族性肿瘤性钙化。通过本病例报告，我们想重申在继发性淀粉样变性鉴别诊断中考虑肿瘤性钙化的必要性以及基因检查在慢性软组织钙化中的关键作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8698/11883317/788aafb64d03/IJN-35-2-303-g2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8698/11883317/68ec6cd612e8/IJN-35-2-303-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8698/11883317/788aafb64d03/IJN-35-2-303-g2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8698/11883317/68ec6cd612e8/IJN-35-2-303-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8698/11883317/788aafb64d03/IJN-35-2-303-g2.jpg

相似文献

1
GALNT3 Mutation in Hyperphosphatemic Familial Tumoral Calcinosis - Novel Etiology of Secondary Amyloidosis.高磷血症性家族性肿瘤性钙化症中的GALNT3突变——继发性淀粉样变性的新病因
Indian J Nephrol. 2025 Mar-Apr;35(2):303-305. doi: 10.25259/ijn_534_23. Epub 2024 Jun 24.
2
Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in Gene: Experience from Southern Turkey.两名携带基因新突变的同胞患高磷血症性家族性肿瘤性钙化症：来自土耳其南部的经验
J Clin Res Pediatr Endocrinol. 2019 Feb 20;11(1):94-99. doi: 10.4274/jcrpe.galenos.2018.2018.0134. Epub 2018 Jul 17.
3
Recessive mutation in GALNT3 causes hyperphosphatemic familial tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis.GALNT3基因的隐性突变导致与慢性复发性多灶性骨髓炎相关的高磷血症性家族性肿瘤性钙化。
Turk J Pediatr. 2019;61(1):130-133. doi: 10.24953/turkjped.2019.01.022.
4
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.新型 GALNT3 突变引起的家族性肿瘤性钙化症的临床变异性。
Am J Med Genet A. 2010 Apr;152A(4):896-903. doi: 10.1002/ajmg.a.33337.
5
Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature.由新型GALNT3突变引起的高磷血症性家族性肿瘤性钙化症和高磷血症性骨肥厚综合征的长期临床结局及表型变异性；病例报告及文献复习
BMC Genet. 2014 Sep 24;15:98. doi: 10.1186/s12863-014-0098-3.
6
Hyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene.GALNT3 基因新变异引起的高磷血症性家族性肿瘤性钙化症。
J Endocrinol Invest. 2020 Aug;43(8):1125-1130. doi: 10.1007/s40618-020-01203-x. Epub 2020 Mar 3.
7
Hyperphosphatemic familial tumoral calcinosis mimicking a cystic hemo-lymphangioma on MRI.磁共振成像表现类似囊性淋巴管瘤的高磷血症性家族性肿瘤性钙化症
Radiol Case Rep. 2022 Sep 28;17(12):4603-4607. doi: 10.1016/j.radcr.2022.08.071. eCollection 2022 Dec.
8
A novel homozygous variant in exon 10 of the gene causing hyperphosphatemic familial tumoral calcinosis in a family from North India.在一个来自印度北部的家族中，该基因第10外显子出现一种新型纯合变异，导致高磷血症性家族性肿瘤性钙化。
Intractable Rare Dis Res. 2021 Feb;10(1):55-57. doi: 10.5582/irdr.2020.03084.
9
High dietary phosphate intake induces development of ectopic calcifications in a murine model of familial tumoral calcinosis.在家族性肿瘤性钙化的小鼠模型中，高膳食磷摄入会诱导异位钙化的形成。
J Bone Miner Res. 2014 Sep;29(9):2017-23. doi: 10.1002/jbmr.2242.
10
Hyperphosphatemic Familial Tumoral Calcinosis With a Large Hip Mass.伴有巨大臀部肿块的高磷血症性家族性肿瘤性钙化症。
Cureus. 2025 Apr 5;17(4):e81756. doi: 10.7759/cureus.81756. eCollection 2025 Apr.

本文引用的文献

1
Tumoral calcinosis: a rare disease.肿瘤性钙质沉着症：一种罕见的疾病。
Tunis Med. 2021 Feb;99(2):306-310.
2
Secondary, AA, Amyloidosis.继发性AA型淀粉样变性
Rheum Dis Clin North Am. 2018 Nov;44(4):585-603. doi: 10.1016/j.rdc.2018.06.004. Epub 2018 Sep 7.
3
Review of tumoral calcinosis: A rare clinico-pathological entity.肿瘤性钙化综述：一种罕见的临床病理实体。
World J Clin Cases. 2014 Sep 16;2(9):409-14. doi: 10.12998/wjcc.v2.i9.409.
4
[Teutschländer disease. A rare benign differential diagnosis of proliferative space-occupying lesions in the periarticular soft tissue].[托伊施兰德病。关节周围软组织增生性占位性病变的一种罕见良性鉴别诊断]
Orthopade. 2004 Jul;33(7):829-35. doi: 10.1007/s00132-004-0641-4.
5
Systemic amyloidosis secondary to tumoral calcinosis.肿瘤性钙化继发的系统性淀粉样变性。
Nephron. 1991;59(3):525-6. doi: 10.1159/000186633.