Current situation and prospect of X-linked hypophosphatemia rickets

LI Wen-xin; REN Li-hong

doi:10.11852/zgetbjzz2020-1919

PDF(631 KB)

Chinese Journal of Child Health Care ›› 2021, Vol. 29 ›› Issue (11) : 1223-1227. DOI: 10.11852/zgetbjzz2020-1919

Review

Current situation and prospect of X-linked hypophosphatemia rickets

LI Wen-xin, REN Li-hong

Author information +

History +

Abstract

X-linked hypophosphatemia rickets(XLH) is a hereditary metabolic bone disease with a complex pathogenesis and is relatively rare clinically. Its main clinical manifestations are skeletal malformation and short stature with a high disability rate. Therefore, early diagnosis and treatment of XLH is of great significance to the rehabilitation of patients. Traditional treatment mainly focuses on supplementing phosphate and vitamin D analogue. With the gradual deepening of scholars′ research on the pathological mechanism of XLH, new therapeutic methods such as molecular targeted therapy have emerged, bringing good news to patients through multidisciplinary joint diagnosis and treatment. In this paper, the clinical characteristics, pathogenesis, treatment status and future development trend of XLH will be reviewed.

Key words

X-linked hypophosphatemia rickets / clinical features / genetic mechanism / treatment

Cite this article

EndNote

Ris (Procite)

Bibtex

Download Citations

LI Wen-xin, REN Li-hong. Current situation and prospect of X-linked hypophosphatemia rickets[J]. Chinese Journal of Child Health Care. 2021, 29(11): 1223-1227 https://doi.org/10.11852/zgetbjzz2020-1919

References

[1] Sammut J,Imbroll MG,Gruppetta M.X-linked hypophosphatemic rickets:the challenges of treatment[J]. Clinic Rev Bone Miner Metab,2019,17:138-141.
[2] Haffner D,Emma F,Eastwood DM,et al.Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia[J]. Nat Rev Nephrol,2019,15(7):435-455.
[3] Jessica C,Olear EA,Insogna KL,et al.Conventional therapy in adults with X-linked hypophosphatemia: effects on enthesopathy and dental disease[J]. J Clin Endocrinol Metab,2015,100(10):3625-3632.
[4] 李丽丽,刘冬云,邵光花,等. 新生儿期诊断伴X染色体遗传低磷性维生素D佝偻病并一家系3例报告[J]. 中国儿童保健杂志,2019,27(2):230-232.
[5] Colares Neto GP,Ide Yamauchi F,Hueb Baroni R,et al.Nephrocalcinosis and nephrolithiasis in X-linked hypophosphatemic rickets: diagnostic imaging and risk factors[J]. J Endocr Soc,2019,3(5):1053-1061.
[6] Li SS,Gu JM,Yu WJ,et al. Seven novel and six de novo PHEX genemutations in patients with hypophosphatemie ricets[J]. Int J Mol Med,2016,38(6):1703-1714.
[7] Carpenter TO,Whyte MP,Imel EA,et al. Burosumab therapy in children with X-linked hypophosphatemia[J]. N Engl J Med,2018,378(21):1987-1998.
[8] Beck-Nielsen SS,Mughal Z,Haffner D,et al. FGF23 and its role in X-linked hypophosphatemia-related morbidity[J]. Orphanet J Rare Dis,2019,14(1):58.
[9] Zheng B,Wang C,Chen Q,et al. Functional characterization of PHEX gene variants in children with X-linked hypophosphatemic rickets shows no evidence of genotype-phenotype correlation[J]. J Bone Miner Res,2020,35(9):1718-1725.
[10] 李媛,马小雪.家族性低磷血症性佝偻病家系X染色体内肽酶同源性的磷酸调节基因新突变一例报道[J].中国全科医学,2018(2):3010-3014.
[11] 李恬恬,张立琴.X-连锁低血磷性抗维生素D佝偻病基因突变研究进展[J].中国儿童保健杂志,2017,25(12):1233-1235.
[12] 张丛,赵真,许莉军,等. X-连锁显性低血磷性佝偻病/骨软化症患者血清成纤维细胞生长因子23水平[J].中华骨质疏松和骨矿盐疾病杂志,2019,12(1):24-31.
[13] 周倩.低磷性佝偻病研究进展[J]. 国际儿科学杂志,2018,45(2):129-132,136.
[14] Kinoshita Y,Fukumoto S.X-linked hypophosphatemia and FGF23-related hypophosphatemic diseases-prospect for new treatment[J].Endocr Rev,2018,39(3):274-291.
[15] 李振彪,张继要,董伟,等.家族性低磷性抗维生素D佝偻病4个家系PHEX、FGF-23、DMP-I基因突变分析[J].中华实用儿科临床杂志,2015,30(20):1549-1553.
[16] Clinkenbeard EL,White KE.Systemic control of bone homeostasis by FGF23 signaling[J]. Curr Mol Biol Rep,2016,2(1):62-71.
[17] Takashi Y,Fukumoto S.Phosphate-sensing and regulatory mechanism of FGF23 production[J].J Endocrinol Invest,2020,43(7):877-883.
[18] Fukumoto S. FGF23-FGF receptor/Klotho pathway as a new drug target for disorders of bone and mineral metabolism[J].Caleif Tissue Int,2016,98(4):334-340.
[19] 殷常瑜,郭伟韬,王怀波,等.X-连锁低血磷性佝偻病发病遗传机制[J].国际医药卫生导报,2020,26(7):916-921.
[20] 莫湘涛.股骨头坏死愈胶囊与双磷酸盐治疗股骨颈移位骨折术后股骨头缺血性坏死临床研究[J].新中医,2020,52(18):89-91.
[21] Kaneko I,Segawa H,Tatsumi S,et al.Genetic diseases of renal phosphate handling[J].Nihon Jinzo Gakkai Shi,2015,57(4):758-765.
[22] Carpenter TO,Imel EA,Holm IA,et al. A clinician′s guide to X-linked hypophosphatemia[J]. J Bone Miner Res,2011,26(7):1381-1388.
[23] Nickolas TL,Jamal SA.Bone kidney interactions[J].Rev Endocr Metab Disord,2015,16(2):157-163.
[24] 张偲,罗小平.低磷抗维生素D性佝偻病诊治进展[J].中国实用儿科杂志,2017,32(9):669-672,674.
[25] 王青青,薛颖.遗传性低磷血症性佝偻病简述[J/OL].发育医学电子杂志,2020,8(3):277-281.
[26] Haffner D,Nssel R,Wihl E,et al. Effects of growth hormone treatment on body proportions and final height among small children with X-linked hypophosphatemic rickets[J]. Pediatries,2004,113(06):593-596.
[27] Imel EA,Zhang X,Ruppe MD,et al.Prolonged correction of serum phosphorus in adults with X-linked hypophosphatemia using monthly doses of KRN23[J].J Clin Endocrinol Metab,2015,100(7):2565-2573.
[28] Gizard A,Rothenbuhler A,Pejin Z,et al.Outcomes of orthopedic surgery in a cohort of 49 patients with X-linked hypophosphatemic rickets(XLHR)[J].Endocr Connect,2017,6(8):566-573.
[29] Lamb YN.Burosumab:first global approval[J].Drugs,2018,78(6):707-714.
[30] Rothenbuhler A,Schnabel D,Högler W,et al. Diagnosis,treatment-monitoring and follow-up of children and adolescents with X-linked hypophosphatemia (XLH)[J]. Metabolism,2020. doi:10.1016/j.metabol.2019.03.009
[31] Carpenter TO,Whyte MP,Imel EA,et al.Burosumab therapy in children with X-linked hypophosphatemia[J]. N Engl J Med,2018,378(21):1987-1998.
[32] Whyte MP,Carpenter TO,Gottesman GS,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):189-199.
[33] Insogna KL,Briot K,Imel EA,et al. A randomized,double-blind,placebocontrolled,phase 3 trial evaluating the efficacy of burosumab,an anti-FGF23 antibody,in adults with X-linked hypophosphatemia:week 24 primary analysis[J].J Bone Miner Res,2018,33(8):1383-1393.