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The use of burosumab to treat autosomal-recessive hypophosphatemic rickets type 2: rationale and a first clinical experience.

作者信息

Parolin Mattia, Partigiani Nicola Bertazza, Benetti Elisa, Longo Germana, Vidal Enrico

机构信息

Pediatric Nephrology, Dialysis and Transplant Unit, Department for Woman's and Child's Health, University-Hospital of Padova, Via Giustiniani 3, 35128, Padua, Italy.

Department of Medicine (DMED), University of Udine, Udine, Italy.

出版信息

J Nephrol. 2024 Jun;37(5):1371-1374. doi: 10.1007/s40620-023-01884-6. Epub 2024 Feb 3.

DOI:10.1007/s40620-023-01884-6
PMID:38308754
Abstract
摘要

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1
The use of burosumab to treat autosomal-recessive hypophosphatemic rickets type 2: rationale and a first clinical experience.布罗索尤单抗治疗2型常染色体隐性低磷性佝偻病：理论依据及首次临床经验
J Nephrol. 2024 Jun;37(5):1371-1374. doi: 10.1007/s40620-023-01884-6. Epub 2024 Feb 3.
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Burosumab Treatment for Autosomal Recessive Hypophosphatemic Rickets Type 1 (ARHR1).布罗索尤单抗治疗常染色体隐性遗传性低磷血症性佝偻病 1 型（ARHR1）。
J Clin Endocrinol Metab. 2022 Sep 28;107(10):2777-2783. doi: 10.1210/clinem/dgac433.
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Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency.常染色体隐性低血磷性佝偻病 2 型（ARHR2），系由于 ENPP1 缺乏所致。
Bone. 2021 Dec;153:116111. doi: 10.1016/j.bone.2021.116111. Epub 2021 Jul 9.
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FGF23 and Hypophosphatemic Rickets/Osteomalacia.成纤维细胞生长因子 23 与低磷血症性佝偻病/骨软化症。
Curr Osteoporos Rep. 2021 Dec;19(6):669-675. doi: 10.1007/s11914-021-00709-4. Epub 2021 Nov 10.
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Safety and efficacy of burosumab in improving phosphate metabolism, bone health, and quality of life in adolescents with X-linked hypophosphatemic rickets.布罗索尤单抗改善 X 连锁低磷血症性佝偻病青少年磷代谢、骨骼健康和生活质量的安全性和有效性。
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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。
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引用本文的文献

1
Commentary on: The use of burosumab to treat autosomal-recessive hypophosphatemic rickets type 2: rationale and a first clinical experience.关于《布罗索尤单抗治疗2型常染色体隐性低磷性佝偻病：理论依据及首次临床经验》的述评
J Nephrol. 2024 Nov;37(8):2059-2060. doi: 10.1007/s40620-024-02057-9. Epub 2024 Aug 20.

本文引用的文献

1
Fibroblast growth factor 23 leads to endolysosomal routing of the renal phosphate cotransporters NaPi-IIa and NaPi-IIc in vivo.成纤维细胞生长因子23在体内导致肾磷酸盐共转运体NaPi-IIa和NaPi-IIc的内溶酶体转运。
Am J Physiol Renal Physiol. 2021 Dec 1;321(6):F785-F798. doi: 10.1152/ajprenal.00250.2021. Epub 2021 Nov 1.
2
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency.常染色体隐性低血磷性佝偻病 2 型（ARHR2），系由于 ENPP1 缺乏所致。
Bone. 2021 Dec;153:116111. doi: 10.1016/j.bone.2021.116111. Epub 2021 Jul 9.
3
Correspondence on "Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)" by Ferreira et al.
费雷拉等人关于“婴儿期全身性动脉钙化（GACI）长期幸存者的前瞻性表型分析”的通信
Genet Med. 2021 Oct;23(10):2006-2007. doi: 10.1038/s41436-021-01228-4. Epub 2021 Jun 14.
4
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).婴儿期全身动脉钙化（GACI）长期幸存者的前瞻性表型分析。
Genet Med. 2021 Feb;23(2):396-407. doi: 10.1038/s41436-020-00983-0. Epub 2020 Oct 2.
5
Generalized Arterial Calcification of Infancy: New Insights, Controversies, and Approach to Management.婴儿期全身动脉钙化：新见解、争议和处理方法。
Curr Osteoporos Rep. 2020 Jun;18(3):232-241. doi: 10.1007/s11914-020-00577-4.
6
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.
7
Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification.ENPP1基因的新型复合杂合突变导致低磷性佝偻病伴前纵韧带骨化。
Rheumatology (Oxford). 2012 Oct;51(10):1919-21. doi: 10.1093/rheumatology/kes089. Epub 2012 Apr 26.
8
Radiographic scoring method for the assessment of the severity of nutritional rickets.用于评估营养性佝偻病严重程度的影像学评分方法。
J Trop Pediatr. 2000 Jun;46(3):132-9. doi: 10.1093/tropej/46.3.132.