|本期目录/Table of Contents|

[1]刘笑孝,王宇,褚亚男,等.X连锁低磷性佝偻病一家系报告并文献复习[J].天津医科大学学报,2021,27(04):419-422.
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《天津医科大学学报》[ISSN:1006-8147/CN:12-1259/R]

卷:
27卷
期数:
2021年04期
页码:
419-422
栏目:
病例报告
出版日期:
2021-07-20

文章信息/Info

Title:
-
文章编号:
1006-8147(2021)04-0419-04
作者:
刘笑孝王宇褚亚男郑荣秀
(天津医科大学总医院儿科,天津 300052)
Author(s):
-
关键词:
X连锁显性低磷性佝偻病PHEX基因基因突变FGF-23
Keywords:
-
分类号:
R725.8
DOI:
-
文献标志码:
B
摘要:
-
Abstract:
-

参考文献/References:

[1] Beck-Nielsen S S,Brock-Jacobsen B,Gram J, et al. Incidence and prevalence of nutritional and hereditary rickets in southern Denmark[J]. Eur J Endocrinol,2009,160(3):491
[2] Kinoshita Y,Fukumoto S. X-Linked hypophosphatemia and FGF23-related hypophosphatemic diseases: prospect for new treatment[J].Endocr Rev,2018,39(3):274
[3] Rowe P S, Oudet C L, Francis F,et al. Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP) [J]. Hum Mol Genet,1997,6(4):539
[4] Gaucher C,Walrant-Debray O,Nguyen T ,et al. PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets[J]. Hum Genet,2009,125(4):401
[5] Morey M,Castro-FeijóoL,Barreiro J,et al. Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type[J]. BMC Med Genet,2011,12:116
[6] Yue H,Yu J B,He J W,et al. Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia[J]. PLoS One,2014,9(5):e97830
[7] Chesher D,Oddy M,Darbar U,et al. Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations[J]. J Inherit Metab Dis,2018,41(5):865
[8] Binessa H A,Zou M,Al-Enezi A F,et al. Functional analysis of 22 splice-site mutations in the PHEX,the causative gene in X-linked dominant hypophosphatemic rickets[J]. Bone,2019,125:186
[9] GuvenA,Al-Rijjal R A,Binessa H A,et al. Mutational analysis of PHEX,FGF23 and CLCN5 in patients with hypophosphataemic rickets[J]. Clin Endocrinol (Oxf),2017,87(1):103
[10] Beck-Nielsen S S,MughalZ,Haffner D,et al. FGF23 and its role in X-linked hypophosphatemia-related morbidity[J]. Orphanet J Rare Dis,2019,14(1):58
[11] Bacchetta J,Bardet C,Prié D. Physiology of FGF23 and overview of genetic diseases associated with renal phosphate wasting[J].Metabolism,2020,103S:153865
[12] 丁桂霞.低磷性佝偻病研究新进展[J].中华实用儿科临床杂志,2019,34(17):1304
[13] Filisetti D,Ostermann G,Von B M,et al.Non-random distribution of mutations in the PHEX gene,and under-detected missense mutations at non-conserved residues[J]. Eur J Hum Genet,1999,7(5):615
[14] Haffner D,Emma F,Eastwood D M,et al. Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia[J]. Nat Rev Nephrol,2019,15(7):435
[15] Fuente R,Gil-Pe?觡a H,Claramunt-Taberner D,et al. X-linked hypophosphatemia and growth[J]. Rev Endocr Metab Disord,2017,
18(1):107
[16] Carpenter T O,Imel E A,Holm I A,et al. A clinician′s guide to X-linked hypophosphatemia[J]. J Bone Miner Res,2011,26(7):1381
[17] Carpenter T O,Whyte M P,Imel E A,et al. Burosumab therapy in children with X-Linked hypophosphatemia[J]. N Engl J Med,2018,378(21):1987
[18] Whyte M P,Carpenter T O,Gottesman G S,et al. Efficacy and safety of burosumab in children aged 1-4 years with X-linked hypophosphataemia: a multicentre,open-label,phase 2 trial[J]. Lancet Diabetes Endocrinol,2019,7(3):189
[19] Imel E A,Glorieux F H,Whyte M P,et al. Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised,active-controlled,open-label,phase 3 trial[J]. Lancet,2019,393(1189):2416
[20] Bueno-Sánchez A M. Surgical indications in hypophosphataemicrickets[J]. Adv Ther,2020,37(Suppl 2):113

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备注/Memo

备注/Memo:
基金项目: 天津市自然科学基金重点项目(17JCZDJC36400);天津市卫计委重点攻关研究项目(16KG123);天津市科技局科学技术普及项目(18KPHDSF00140)
作者简介: 刘笑孝(1995-),女,硕士在读,研究方向:儿科学;通信作者: 郑荣秀,E-mail:rzheng@tmu.edu.cn。
更新日期/Last Update: 2021-07-25