Burosumab in management of X-linked hypophosphataemia: a retrospective cohort study of growth and serum phosphate levels

Walker, Emma Yi Xiu; Lindsay, Timothy Alexander James; Allgrove, Jeremy; Marlais, Matko; Böckenhauer, Detlef; Hayes, Wesley

doi:10.1136/archdischild-2022-324962

Cited by 4 publications

(11 citation statements)

References 16 publications

(34 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Furthermore, a greater clinical improvement in rickets severity, longitudinal growth, and biochemical findings has been demonstrated in patients with XLH and an RSS of at least 2 treated with burosumab compared with patients continuing on conventional treatment (126). Beneficial effects of burosumab treatment on phosphate metabolism, skeletal lesions of rickets, and linear growth are reported in other recent studies (127)(128)(129)(130)(131)(132)(133). The main recommendations for treatment with burosumab for patients with XLH are summarized in Table 9 (134)(135)(136).…”

Section: Burosumab Treatment In Patients With Xlhmentioning

confidence: 77%

See 1 more Smart Citation

Diagnosis, treatment, and management of rickets: a position statement from the Bone and Mineral Metabolism Group of the Italian Society of Pediatric Endocrinology and Diabetology

Baroncelli,

Comberiati,

Aversa

et al. 2024

Front. Endocrinol.

View full text Add to dashboard Cite

Rickets results from impaired mineralization of growing bone due to alterations in calcium and phosphate homeostasis. Clinical signs of rickets are related to the age of the patient, the duration of the disease, and the underlying disorder. The most common signs of rickets are swelling of the wrists, knees or ankles, bowing of the legs (knock-knees, outward bowing, or both) and inability to walk. However, clinical features alone cannot differentiate between the various forms of rickets. Rickets includes a heterogeneous group of acquired and inherited diseases. Nutritional rickets is due to a deficiency of vitamin D, dietary calcium or phosphate. Mutations in genes responsible for vitamin D metabolism or function, the production or breakdown of fibroblast growth factor 23, renal phosphate regulation, or bone mineralization can lead to the hereditary form of rickets. This position paper reviews the relevant literature and presents the expertise of the Bone and Mineral Metabolism Group of the Italian Society of Pediatric Endocrinology and Diabetology (SIEDP). The aim of this document is to provide practical guidance to specialists and healthcare professionals on the main criteria for diagnosis, treatment, and management of patients with rickets. The various forms of rickets are discussed, and detailed references for the discussion of each form are provided. Algorithms to guide the diagnostic approach and recommendations to manage patients with rare forms of hereditary rickets are proposed.

show abstract

Section: Burosumab Treatment In Patients With Xlhmentioning

confidence: 77%

“…Burosumab treatment is well tolerated and safe. The most common adverse drug reactions reported in pediatric patients were transient injection site reaction, headache, and pain in the extremities (101,124,132,(134)(135)(136)(137).…”

Section: Burosumab Treatment In Patients With Xlhmentioning

confidence: 99%

Diagnosis, treatment, and management of rickets: a position statement from the Bone and Mineral Metabolism Group of the Italian Society of Pediatric Endocrinology and Diabetology

Baroncelli,

Comberiati,

Aversa

et al. 2024

Front. Endocrinol.

View full text Add to dashboard Cite

show abstract

“…The socio-demographic information of participants from eight distinct research studies is included in Table 1. which summarizes the small number of patients from references [14][15][16][17][18][19][20][21]. These studies' geographic scope is expansive, encompassing countries such as the UK [14], Milan [15], and Japan [17].…”

Section: Characteristics Of the Included Studies Table 1 Socio-demogr...mentioning

confidence: 99%

“…which summarizes the small number of patients from references [14][15][16][17][18][19][20][21]. These studies' geographic scope is expansive, encompassing countries such as the UK [14], Milan [15], and Japan [17].…”

Section: Characteristics Of the Included Studies Table 1 Socio-demogr...mentioning

confidence: 99%

See 1 more Smart Citation

The Efficacy of Burosumab Treatment for Hypophosphatemic Rickets: Systematic Review

Alnajashi,

Alshehri,

Shihabi

2023

AJMAH

View full text Add to dashboard Cite

Background/Objective: The approval of burosumab for the treatment of X-linked hypophosphatemia (XLH) in adults and children is a significant milestone. Nevertheless, there is a scarcity of data regarding its safety and efficacy in adolescents. The primary objective of this research is to assess the safety and effectiveness of burosumab in the treatment of hypophosphatemia rickets in adolescents. Methods: An extensive and comprehensive search was carried out primarily utilizing the PubMed database, in accordance with the PRISMA criteria. The search parameters were confined to studies conducted in the English language that investigated the effectiveness and safety of burosumab in the treatment of hypophosphatemic rickets. Specific criteria for inclusion and exclusion were established to guarantee the quality and relevance of the research under evaluation. Results: The study encompassed a broad spectrum of research from various geographical regions across the globe, with no particular focus on gender or age. A discernible pattern emerged, indicating a favorable efficacy of burosumab as a therapeutic intervention for hypophosphatemic rickets. Conclusion: Burosumab seems to enhance results in both younger and older children with hypophosphatemic rickets.

show abstract

Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family

Zhang

Ding

et al. 2023

Calcif Tissue Int

View full text Add to dashboard Cite

Rare genetic skeletal disorders (GSDs) remain the major problem in orthopedics and result in significant morbidity in patients, but the causes are highly diverse. Precise molecular diagnosis will benefit management and genetic counseling. This study aims to share the diagnostic experience on a three-generation Chinese family with co-occurrence of spondyloepiphyseal dysplasia (SED) and X-linked hypophosphatemia (XLH), and evaluate the therapeutic effects of two third-generation siblings. The proband, his younger brother, and mother presented with short stature, skeletal problems, and hypophosphatemia. His father, paternal grandfather, and aunt also manifested short stature and skeletal deformities. Whole exome sequencing (WES) of proband–brother–parents initially only found the proband and his younger brother had a pathogenic c.2833G > A(p.G945S) variant in the COL2A1 gene inherited from their father. Re-analysis of WES uncovered the proband and his younger brother also harbored a pathogenic ex.12 del variant in the PHEX gene transmitted from their mother. Sanger sequencing, agarose gel electrophoresis, and quantitative polymerase chain reaction proved these results. The proband and his younger brother were confirmed to have a paternally inherited SED and a maternally inherited XLH. During a 2.8-year follow-up, these two siblings remained short stature and hypophosphatemia, but their radiographic signs and serum bone alkaline phosphatase levels were improved with treatment of oral phosphate and calcitriol. Our study presents the first report of co-occurrence of SED and XLH, shows the possibility that two different rare GSDs co-exist in a single patient, and alerts clinicians and geneticists to be cautious about this condition. Our study also suggests that next-generation sequencing has limit in detecting exon-level large deletions.

show abstract

Burosumab in management of X-linked hypophosphataemia: a retrospective cohort study of growth and serum phosphate levels

Cited by 4 publications

References 16 publications

Diagnosis, treatment, and management of rickets: a position statement from the Bone and Mineral Metabolism Group of the Italian Society of Pediatric Endocrinology and Diabetology

Diagnosis, treatment, and management of rickets: a position statement from the Bone and Mineral Metabolism Group of the Italian Society of Pediatric Endocrinology and Diabetology

The Efficacy of Burosumab Treatment for Hypophosphatemic Rickets: Systematic Review

Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family

Contact Info

Product

Resources

About