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X连锁低磷性佝偻病：迟发性诊断及靶向治疗改善骨痛的病例报告

X-linked hypophosphatemic rickets: Case report of late diagnosis and bone pain improvement with targeted treatment.

作者信息

Bermeo Cabrera Marcia Janneth, Ordoñez Chacha Pablo Roberto, Reza-Albarrán Alfredo Adolfo, Ordoñez Chacha Ana Karina, Acero Marcy Acosta, Rodas Serrano Agustin

机构信息

Department of Endocrinology and Internal Medicine Municipal Foundation for Women and Children (Fundación Municipal de la Mujer y el Niño - FMMN) Cuenca Ecuador.

Department of Endocrinology Salvador Zubiran National Institute of Health Sciences and Nutrition (Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubiran - INCMNSZ) Mexico City Mexico.

出版信息

Clin Case Rep. 2022 Aug 15;10(8):e6217. doi: 10.1002/ccr3.6217. eCollection 2022 Aug.

DOI:10.1002/ccr3.6217
PMID:35990385
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9377386/
Abstract

X-linked hypophosphatemia (XLH) is a rare disexase in which patients present with severe bowing of the legs, joint pain, and mobility problems. XLH has major adverse repercussions on the quality of life.

摘要

X连锁低磷血症（XLH）是一种罕见疾病，患者表现为严重的腿部弯曲、关节疼痛和行动问题。XLH对生活质量有重大不良影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2bdc/9377386/d44681369824/CCR3-10-e6217-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2bdc/9377386/f0804ea9b531/CCR3-10-e6217-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2bdc/9377386/a07b15801c44/CCR3-10-e6217-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2bdc/9377386/934d1528f7fe/CCR3-10-e6217-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2bdc/9377386/89f782643cc9/CCR3-10-e6217-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2bdc/9377386/d44681369824/CCR3-10-e6217-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2bdc/9377386/f0804ea9b531/CCR3-10-e6217-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2bdc/9377386/a07b15801c44/CCR3-10-e6217-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2bdc/9377386/934d1528f7fe/CCR3-10-e6217-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2bdc/9377386/89f782643cc9/CCR3-10-e6217-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2bdc/9377386/d44681369824/CCR3-10-e6217-g004.jpg

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本文引用的文献

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Clinical Evidence for the Benefits of Burosumab Therapy for X-Linked Hypophosphatemia (XLH) and Other Conditions in Adults and Children.成人和儿童 X 连锁低磷血症（XLH）及其他疾病中使用布罗索尤单抗治疗的临床证据。
Front Endocrinol (Lausanne). 2020 May 28;11:338. doi: 10.3389/fendo.2020.00338. eCollection 2020.
2
Multidisciplinary patient care in X-linked hypophosphatemic rickets: one challenge, many perspectives.X连锁低磷性佝偻病的多学科患者护理：一项挑战，多种视角
Wien Med Wochenschr. 2020 Apr;170(5-6):116-123. doi: 10.1007/s10354-019-00732-2. Epub 2020 Jan 28.
3
X-linked hypophosphatemic rickets: Diagnosis in adult and paucisymptomatic form.
X连锁低磷性佝偻病：成人及症状轻微型的诊断
Reumatol Clin (Engl Ed). 2021 Feb;17(2):116-117. doi: 10.1016/j.reuma.2019.07.007. Epub 2019 Nov 6.
4
FGF23 and Associated Disorders of Phosphate Wasting.成纤维细胞生长因子23与磷酸盐消耗相关疾病
Pediatr Endocrinol Rev. 2019 Sep;17(1):17-34. doi: 10.17458/per.vol17.2019.gi.fgf23anddisordersphosphate.
5
Nationwide Turkish Cohort Study of Hypophosphatemic Rickets.全国性土耳其佝偻病低磷血症队列研究。
J Clin Res Pediatr Endocrinol. 2020 Jun 3;12(2):150-159. doi: 10.4274/jcrpe.galenos.2019.2019.0098. Epub 2019 Sep 13.
6
The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey.X连锁低磷血症的终身影响：疾病负担调查结果
J Endocr Soc. 2019 May 7;3(7):1321-1334. doi: 10.1210/js.2018-00365. eCollection 2019 Jul 1.
7
Diagnosis, treatment-monitoring and follow-up of children and adolescents with X-linked hypophosphatemia (XLH).儿童和青少年 X 连锁低磷血症（XLH）的诊断、治疗监测和随访。
Metabolism. 2020 Feb;103S:153892. doi: 10.1016/j.metabol.2019.03.009. Epub 2019 Mar 27.
8
Hypophosphatemic Rickets.低磷性佝偻病
Pediatr Clin North Am. 2019 Feb;66(1):179-207. doi: 10.1016/j.pcl.2018.09.004.
9
Hypocalcaemic and hypophosphatemic rickets.低钙血症和低磷血症性佝偻病。
Best Pract Res Clin Endocrinol Metab. 2018 Aug;32(4):455-476. doi: 10.1016/j.beem.2018.05.009. Epub 2018 Jul 4.
10
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