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An 8-year-old with genu valgum: Answers.

作者信息

Srikanth Kishan, Srivaths Poyyapakkam R, Shah Shweta

机构信息

University of Houston, Houston, TX, USA.

Renal Section, Department of Pediatrics, Baylor College of Medicine, 1102 Bates St, Suite 245, Houston, TX, 77030, USA.

出版信息

Pediatr Nephrol. 2019 Apr;34(4):621-624. doi: 10.1007/s00467-018-4090-4. Epub 2018 Sep 26.

DOI:10.1007/s00467-018-4090-4
PMID:30259113
Abstract
摘要

相似文献

1
An 8-year-old with genu valgum: Answers.一名8岁膝外翻患儿：答案
Pediatr Nephrol. 2019 Apr;34(4):621-624. doi: 10.1007/s00467-018-4090-4. Epub 2018 Sep 26.
2
Intronic deletions in the SLC34A3 gene: a cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria.SLC34A3 基因内含子缺失：遗传性低血磷性佝偻病伴高钙尿症突变分析的警示故事。
Bone. 2014 Feb;59:53-6. doi: 10.1016/j.bone.2013.10.018. Epub 2013 Oct 29.
3
Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation.遗传性低血磷性佝偻病伴高钙尿和肾结石-新型 SLC34A3/NaPi-IIc 突变的鉴定。
Am J Med Genet A. 2011 Mar;155A(3):626-33. doi: 10.1002/ajmg.a.33832. Epub 2011 Feb 22.
4
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a complex disorder in need of precision medicine.遗传性低血磷性佝偻病伴高钙尿症（HHRH），一种需要精准医学的复杂疾病。
Kidney Int. 2024 May;105(5):927-929. doi: 10.1016/j.kint.2024.02.006.
5
A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient.一个 SLC34A3 中的复合杂合突变导致了一名中国患者的遗传性低血磷性佝偻病伴高钙尿症。
Bone. 2014 Feb;59:114-21. doi: 10.1016/j.bone.2013.11.008. Epub 2013 Nov 16.
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SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria.一个患有伴高钙尿症的遗传性低磷血症佝偻病的新家族中的SLC34A3内含子缺失。
J Clin Res Pediatr Endocrinol. 2012 Jun;4(2):89-93. doi: 10.4274/jcrpe.601.
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Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred.几种不相关家族中导致 HHRH 和特发性高钙尿症的新型 NaPi-IIc 突变：一个家族的长期随访。
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Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function.伴高钙尿症的遗传性低磷血症性佝偻病：IIc型磷酸盐转运体基因与成骨细胞功能的研究
J Bone Miner Metab. 2007;25(6):407-13. doi: 10.1007/s00774-007-0776-6. Epub 2007 Oct 25.
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Variable Clinical Presentation of Children with Hereditary Hypophosphatemic Rickets with Hypercalciuria: A Case Series and Review of the Literature.遗传性低血磷性佝偻病伴高钙尿症患儿的临床表现多变：病例系列及文献复习。
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Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/type IIc sodium-phosphate cotransporter: presentation as hypercalciuria and nephrolithiasis.由于 SLC34A3/IIc 型钠-磷共转运体基因突变导致的低磷血症性佝偻病伴高钙尿症：以高钙尿和肾结石表现。
J Clin Endocrinol Metab. 2009 Nov;94(11):4433-8. doi: 10.1210/jc.2009-1535. Epub 2009 Oct 9.

本文引用的文献

1
Burosumab Therapy in Children with X-Linked Hypophosphatemia.布罗索尤单抗治疗 X 连锁低磷血症患儿。
N Engl J Med. 2018 May 24;378(21):1987-1998. doi: 10.1056/NEJMoa1714641.
2
Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c.由SLC34A3/NPT2c突变引起的晚发性遗传性低磷血症性佝偻病伴高钙尿症（HHRH）
Bone. 2017 Apr;97:15-19. doi: 10.1016/j.bone.2016.12.001. Epub 2016 Dec 7.
3
Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.SLC34A3/NPT2c基因的突变与肾结石和肾钙质沉着症有关。
J Am Soc Nephrol. 2014 Oct;25(10):2366-75. doi: 10.1681/ASN.2013101085. Epub 2014 Apr 3.
4
Inactivation of a novel FGF23 regulator, FAM20C, leads to hypophosphatemic rickets in mice.一种新型 FGF23 调节因子 FAM20C 的失活导致小鼠发生低磷性佝偻病。
PLoS Genet. 2012;8(5):e1002708. doi: 10.1371/journal.pgen.1002708. Epub 2012 May 17.
5
Regulation of bone-renal mineral and energy metabolism: the PHEX, FGF23, DMP1, MEPE ASARM pathway.骨-肾矿物质与能量代谢的调节：PHEX、FGF23、DMP1、MEPE ASARM信号通路
Crit Rev Eukaryot Gene Expr. 2012;22(1):61-86. doi: 10.1615/critreveukargeneexpr.v22.i1.50.
6
Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice.铁缺乏导致成纤维细胞生长因子 23（Fgf23）敲入小鼠中常染色体显性低磷血症性佝偻病（ADHR）表型。
Proc Natl Acad Sci U S A. 2011 Nov 15;108(46):E1146-55. doi: 10.1073/pnas.1110905108. Epub 2011 Oct 17.
7
A clinician's guide to X-linked hypophosphatemia.X 连锁低磷血症的临床医师指南。
J Bone Miner Res. 2011 Jul;26(7):1381-8. doi: 10.1002/jbmr.340. Epub 2011 May 2.
8
Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation.遗传性低血磷性佝偻病伴高钙尿和肾结石-新型 SLC34A3/NaPi-IIc 突变的鉴定。
Am J Med Genet A. 2011 Mar;155A(3):626-33. doi: 10.1002/ajmg.a.33832. Epub 2011 Feb 22.
9
Hereditary disorders of renal phosphate wasting.遗传性肾脏磷丢失障碍。
Nat Rev Nephrol. 2010 Nov;6(11):657-65. doi: 10.1038/nrneph.2010.121. Epub 2010 Oct 5.
10
A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc.SLC34A3基因中的一种新型错义突变导致人类遗传性低磷血症性佝偻病伴高钙尿症，该突变确定了苏氨酸137是NaPi-IIc中钠磷共转运的重要决定因素。
Am J Physiol Renal Physiol. 2008 Aug;295(2):F371-9. doi: 10.1152/ajprenal.00090.2008. Epub 2008 May 14.