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本文引用的文献

1
Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment.皮肤骨骼低磷血症综合征:临床谱、自然病史及治疗
Osteoporos Int. 2016 Dec;27(12):3615-3626. doi: 10.1007/s00198-016-3702-8. Epub 2016 Aug 6.
2
Renal phosphate transporters.肾磷酸盐转运体
Curr Opin Nephrol Hypertens. 2014 Sep;23(5):502-6. doi: 10.1097/MNH.0000000000000053.
3
Therapeutic management of hypophosphatemic rickets from infancy to adulthood.从婴儿期到成年期的低磷血症性佝偻病的治疗管理。
Endocr Connect. 2014 Mar 14;3(1):R13-30. doi: 10.1530/EC-13-0103. Print 2014.
4
Calcium regulates FGF-23 expression in bone.钙调节骨中 FGF-23 的表达。
Endocrinology. 2013 Dec;154(12):4469-82. doi: 10.1210/en.2013-1627. Epub 2013 Oct 18.
5
The Association between Parathyroid Hormone Levels and Hemoglobin in Diabetic and Nondiabetic Participants in the National Kidney Foundation's Kidney Early Evaluation Program.美国国家肾脏基金会肾脏早期评估项目中糖尿病和非糖尿病参与者的甲状旁腺激素水平与血红蛋白之间的关联
Cardiorenal Med. 2013 Jul;3(2):120-127. doi: 10.1159/000351229. Epub 2013 Jun 1.
6
Approach to the hypophosphatemic patient.低磷血症患者的处理方法。
J Clin Endocrinol Metab. 2012 Mar;97(3):696-706. doi: 10.1210/jc.2011-1319.
7
Genetic disorders of phosphate regulation.磷酸盐调节相关的遗传性疾病。
Pediatr Nephrol. 2012 Sep;27(9):1477-87. doi: 10.1007/s00467-012-2103-2. Epub 2012 Feb 14.
8
The Association between Parathyroid Hormone Levels and the Cardiorenal Metabolic Syndrome in Non-Diabetic Chronic Kidney Disease.非糖尿病慢性肾脏病患者甲状旁腺激素水平与心肾代谢综合征之间的关联
Cardiorenal Med. 2011;1(2):123-130. doi: 10.1159/000327149. Epub 2011 Apr 15.
9
Phosphate Metabolism in Cardiorenal Metabolic Disease.心肾代谢疾病中的磷代谢
Cardiorenal Med. 2011;1(4):261-270. doi: 10.1159/000332388. Epub 2011 Oct 13.
10
How fibroblast growth factor 23 works.成纤维细胞生长因子23的作用机制。
J Am Soc Nephrol. 2007 Jun;18(6):1637-47. doi: 10.1681/ASN.2007010068. Epub 2007 May 9.

成纤维细胞生长因子23与低磷血症:一例佝偻病-骨软化症谱系中的低磷血症病例

Fibroblast Growth Factor 23 and Hypophosphatemia: A Case of Hypophosphatemia along the Rickets-Osteomalacia Spectrum.

作者信息

Georges George T, Nájera O, Sowers Kurt, Sowers James R

机构信息

Diabetes and Cardiovascular Center, Department of Medicine, University of Missouri, Columbia, Mo., USA.

Department of Medicine, Touro University, Henderson, Nev., USA.

出版信息

Cardiorenal Med. 2016 Nov;7(1):60-65. doi: 10.1159/000449476. Epub 2016 Sep 30.

DOI:10.1159/000449476
PMID:27994603
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5159715/
Abstract

Phosphorus is a key component of bone, and a deficiency results in poor mineralization along with other systemic symptoms of hypophosphatemia. Various causes of hypophosphatemia with renal wasting of phosphorus have been identified. These include the Fanconi syndrome, various genetic mutations of fibroblast growth factor 23 (FGF23) handling and the sodium/phosphate cotransporter, and those due to FGF23 secretion by mesenchymal tumors. Depending on the cause, vitamin D metabolism may also be impaired, which may amplify the deficiency in phosphorus and render treatment more challenging. Here, we report a case of hypophosphatemia and multiple stress fractures in a 20-year-old male college student living with chronic bone pain and anxiety about suffering further fractures. We further review the literature regarding this spectrum.

摘要

磷是骨骼的关键组成部分,磷缺乏会导致矿化不良以及低磷血症的其他全身症状。已确定多种导致磷经肾脏流失的低磷血症病因。这些病因包括范科尼综合征、成纤维细胞生长因子23(FGF23)处理及钠/磷共转运体的各种基因突变,以及间充质肿瘤分泌FGF23导致的病因。根据病因不同,维生素D代谢也可能受损,这可能会加重磷缺乏并使治疗更具挑战性。在此,我们报告一例20岁男性大学生患低磷血症及多处应力性骨折的病例,该患者长期遭受骨痛困扰,并担心会再次骨折。我们还进一步回顾了关于这一疾病谱的文献。