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The Complexities and Challenges of Managing Genetic Causes of Hyperphosphataemia, a Case Report.

作者信息

Rodrigues Farrah, Hofman Paul L, Quinlan Catherine, Zacharin Margaret

机构信息

Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.

Department of Endocrinology and Diabetes, Royal Children's Hospital, Melbourne, Victoria, Australia.

出版信息

J Paediatr Child Health. 2025 Aug;61(8):1332-1337. doi: 10.1111/jpc.70107. Epub 2025 Jun 26.

DOI:10.1111/jpc.70107
PMID:40568797
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12397836/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9db9/12397836/09c9ee021e29/JPC-61-1332-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9db9/12397836/09c9ee021e29/JPC-61-1332-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9db9/12397836/09c9ee021e29/JPC-61-1332-g001.jpg

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本文引用的文献

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The Successful Treatment of Deep Soft-tissue Calcifications with Topical Sodium Thiosulphate and Acetazolamide in a Boy with Hyperphosphatemic Familial Tumoral Calcinosis due to a Novel Mutation in .一名因新型突变导致高磷血症性家族性肿瘤性钙化症的男孩，局部应用硫代硫酸钠和乙酰唑胺成功治疗深部软组织钙化
J Clin Res Pediatr Endocrinol. 2022 Jun 7;14(2):239-243. doi: 10.4274/jcrpe.galenos.2021.2020.0269. Epub 2021 Mar 9.
2
Hyperphosphatemic Tumoral Calcinosis: Pathogenesis, Clinical Presentation, and Challenges in Management.高磷血症性肿瘤性钙化症：发病机制、临床表现及治疗挑战。
Front Endocrinol (Lausanne). 2020 May 8;11:293. doi: 10.3389/fendo.2020.00293. eCollection 2020.
3
Strategies for Phosphate Control in Patients With CKD.
慢性肾脏病患者磷酸盐控制策略
Kidney Int Rep. 2019 Jun 20;4(8):1043-1056. doi: 10.1016/j.ekir.2019.06.002. eCollection 2019 Aug.
4
Hyperphosphatemic tumoral calcinosis caused by FGF23 compound heterozygous mutations: what are the therapeutic options for a better control of phosphatemia?成纤维细胞生长因子 23 复合杂合突变引起的高磷血症性肿瘤性钙化症：为更好地控制血磷，有哪些治疗选择？
Pediatr Nephrol. 2018 Jul;33(7):1263-1267. doi: 10.1007/s00467-018-3945-z. Epub 2018 Mar 28.
5
Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome.一组家族性肿瘤性钙化/骨肥厚-高磷血症综合征患者的表型和基因型特征及治疗
J Bone Miner Res. 2016 Oct;31(10):1845-1854. doi: 10.1002/jbmr.2870. Epub 2016 Sep 20.
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Severe vascular calcification and tumoral calcinosis in a family with hyperphosphatemia: a fibroblast growth factor 23 mutation identified by exome sequencing.高磷血症家族中的严重血管钙化和肿瘤性钙化：通过外显子组测序鉴定出的成纤维细胞生长因子23突变
Nephrol Dial Transplant. 2014 Dec;29(12):2235-43. doi: 10.1093/ndt/gfu324. Epub 2014 Nov 5.
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