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Acquired Osteomalacia Associated with Autoantibodies against PHEX.

作者信息

Hoshino Yoshitomo, Okamoto Kazuo, Ogawa Tomohiro, Kato Hajime, Irie Koki, Watanabe So, Kimura Soichiro, Hidaka Naoko, Kinoshita Yuka, Kobayashi Hiroshi, Hagiwara Daisuke, Kogawa Masakazu, Takayanagi Hiroshi, Tanaka Sakae, Nangaku Masaomi, Makita Noriko, Burbelo Peter D, Saito Taku, Ito Nobuaki

机构信息

University of Tokyo Hospital, Tokyo, Japan.

Kanazawa University, Kanazawa, Japan.

出版信息

N Engl J Med. 2025 Jan 30;392(5):513-515. doi: 10.1056/NEJMc2405746.

DOI:10.1056/NEJMc2405746
PMID:39879599
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11781776/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13a1/11781776/d591d73da858/nihms-2034533-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13a1/11781776/d591d73da858/nihms-2034533-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13a1/11781776/d591d73da858/nihms-2034533-f0001.jpg

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Acquired Osteomalacia Associated with Autoantibodies against PHEX.与抗PHEX自身抗体相关的获得性骨软化症
N Engl J Med. 2025 Jan 30;392(5):513-515. doi: 10.1056/NEJMc2405746.
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Identification of a novel loss-of-function PHEX mutation, Ala720Ser, in a sporadic case of adult-onset hypophosphatemic osteomalacia.鉴定出一个新的 PHEX 基因突变(Ala720Ser),该突变导致散发性成人发病型低血磷性骨软化症。
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More on Acquired Osteomalacia and Autoantibodies against PHEX.
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More on Acquired Osteomalacia and Autoantibodies against PHEX. Reply.
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Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia.中国低磷性佝偻病/骨软化症患者中PHEX基因两个新突变的鉴定。
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Osteomalacia in hyp mice is associated with abnormal phex expression and with altered bone matrix protein expression and deposition.低磷小鼠中的骨软化症与PHEX表达异常以及骨基质蛋白表达和沉积改变有关。
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Familial cases with adult-onset FGF23-related hypophosphatemic osteomalacia -A PHEX 3'-UTR change as a possible cause.家族性成发病例伴有 FGF23 相关低血磷性骨软化症-作为可能原因的 PHEX 3'-UTR 改变。
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A Novel Synonymous Variant of PHEX in a Patient with X-Linked Hypophosphatemia.一个伴 X 连锁低磷血症患者的 PHEX 新型同义变异。
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[Hypophosphatemic rickets/osteomalacia. - Mainly on patients with PHEX mutations -].[低磷性佝偻病/骨软化症。——主要针对伴有PHEX基因突变的患者——]
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The wrickkened pathways of FGF23, MEPE and PHEX.FGF23、MEPE和PHEX的异常途径。 (注:原文中“wrickkened”可能有误,推测为“wicked”之类的词,这里按“异常的”来翻译)
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引用本文的文献

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Diagnostic Journey in the Recognition of Oncogenic Osteomalacia.肿瘤性骨软化症诊断历程
JCEM Case Rep. 2025 Sep 1;3(10):luaf179. doi: 10.1210/jcemcr/luaf179. eCollection 2025 Oct.

本文引用的文献

1
Clinical Challenges in Diagnosis, Tumor Localization and Treatment of Tumor-Induced Osteomalacia: Outcome of a Retrospective Surveillance.肿瘤性骨软化症的诊断、肿瘤定位和治疗中的临床挑战:回顾性监测结果。
J Bone Miner Res. 2022 Aug;37(8):1479-1488. doi: 10.1002/jbmr.4620. Epub 2022 Jul 1.
2
Ga-DOTATATE for Tumor Localization in Tumor-Induced Osteomalacia.镓-多柔比星用于肿瘤性骨软化症的肿瘤定位
J Clin Endocrinol Metab. 2016 Oct;101(10):3575-3581. doi: 10.1210/jc.2016-2052. Epub 2016 Aug 17.
3
Luciferase immunoprecipitation systems for measuring antibodies in autoimmune and infectious diseases.
用于测量自身免疫性疾病和感染性疾病中抗体的荧光素酶免疫沉淀系统。
Transl Res. 2015 Feb;165(2):325-35. doi: 10.1016/j.trsl.2014.08.006. Epub 2014 Sep 1.
4
Tumor localization and biochemical response to cure in tumor-induced osteomalacia.肿瘤所致骨软化症中的肿瘤定位和生化反应。
J Bone Miner Res. 2013 Jun;28(6):1386-98. doi: 10.1002/jbmr.1881.
5
Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia.成骨细胞骨软化症和X连锁低磷血症中的成纤维细胞生长因子23
N Engl J Med. 2003 Apr 24;348(17):1656-63. doi: 10.1056/NEJMoa020881.