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Hyperphosphatemia With Normal Kidney Function Associated With Genetic Variants of .

作者信息

Schulz Iris, Kutscher Alejandra, Krall Paola, Carpio Daniel, Ardiles Leopoldo

机构信息

Department of Nephrology, Faculty of Medicine, Universidad Austral de Chile, Valdivia, Chile.

Institute of Medicine, Faculty of Medicine, Universidad Austral de Chile, Valdivia, Chile.

出版信息

Kidney Int Rep. 2023 Oct 3;8(12):2838-2841. doi: 10.1016/j.ekir.2023.09.032. eCollection 2023 Dec.

DOI:10.1016/j.ekir.2023.09.032
PMID:38106599
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10719595/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3b2b/10719595/ff8f1c042e77/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3b2b/10719595/ff8f1c042e77/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3b2b/10719595/ff8f1c042e77/gr1.jpg

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本文引用的文献

1
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.
2
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.
3
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.
4
Fibroblast growth factor 23.成纤维细胞生长因子 23.
Ann Clin Biochem. 2014 Mar;51(Pt 2):203-27. doi: 10.1177/0004563213510708. Epub 2013 Nov 22.
5
Method-specific differences in plasma fibroblast growth factor 23 measurement using four commercial ELISAs.四种商业 ELISA 检测血浆成纤维细胞生长因子 23 的方法特异性差异。
Clin Chem Lab Med. 2013 Oct;51(10):1971-81. doi: 10.1515/cclm-2013-0208.
6
Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis.GALNT3 中的新突变导致高磷血症性家族性肿瘤性钙化症。
J Bone Miner Metab. 2011 Sep;29(5):621-5. doi: 10.1007/s00774-011-0260-1. Epub 2011 Feb 25.
7
Isolated C-terminal tail of FGF23 alleviates hypophosphatemia by inhibiting FGF23-FGFR-Klotho complex formation.FGF23 的 C 端尾部可通过抑制 FGF23-FGFR-Klotho 复合物的形成来缓解低磷血症。
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8
A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features.一例家族性肿瘤性钙质沉着症/骨肥厚-高磷酸血症综合征，由 GALNT3 复合杂合突变引起，表现出新的表型特征。
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J Clin Endocrinol Metab. 2006 Oct;91(10):4037-42. doi: 10.1210/jc.2006-0305. Epub 2006 Jul 25.