Outcomes of orthopedic surgery in a cohort of 49 patients with X-linked hypophosphatemic rickets (XLHR)

Gizard, Aliette; Rothenbühler, Anya; Péjin, Zagorka; Finidori, G; Glorion, C.; Billy, B. de; Linglart, Agnès; Wicart, Philippe

doi:10.1530/ec-17-0154

Cited by 42 publications

(33 citation statements)

References 23 publications

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“…Such surgery is associated with notable rates of recurrence and of complications, especially in young children and in patients with poor metabolic control. In one study, 57% patients (28 of 49) experienced at least one complication of surgery, with recurrent deformity in 29% of patients 9 . Therefore, delaying surgical treatment for residual deformity until skeletal maturity might be prudent.…”

Section: Casts Insoles and Physiotherapymentioning

confidence: 99%

“…Orthopaedic management of XlH in children osteotomies performed early in childhood to treat deformity have historically been associated with a high recurrence rate and complications 11,[157][158][159] . Currently, with improvements in medical care, limb deformity improves in most patients, persists in others and progresses to a severe deformity in a minority 9,10,52,160 . Surgical approaches now include the less invasive techniques of guided growth surgery performed early in childhood, which contrast with the active delay of corrective surgery using complex osteotomies until the patient is skeletally mature 9,160 .…”

Section: Musculoskeletal Symptomsmentioning

confidence: 99%

“…Currently, with improvements in medical care, limb deformity improves in most patients, persists in others and progresses to a severe deformity in a minority 9,10,52,160 . Surgical approaches now include the less invasive techniques of guided growth surgery performed early in childhood, which contrast with the active delay of corrective surgery using complex osteotomies until the patient is skeletally mature 9,160 . In guided growth surgery, a small metal plate is placed on the medial or lateral surface of the bone (for valgus or varus deformities) at the level of the physis (growth plate).…”

Section: Musculoskeletal Symptomsmentioning

confidence: 99%

“…Lower limb deformities can be treated by performing osteotomies at the site or sites of major deformity and correcting in all three planes. The osteotomy could result in acute correction of the deformity with internal fixation or gradual correction of deformity using external fixation techniques 9,117,122,159,160,167 . Such surgery is associated with notable rates of recurrence and of complications, especially in young children and in patients with poor metabolic control.…”

Section: Casts Insoles and Physiotherapymentioning

confidence: 99%

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Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

et al. 2019

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X-linked hypophosphataemia (XLH) is an X-linked dominant disorder caused by mutations in PHEX (located at Xp22.1), which encodes a cell-surface-bound protein-cleavage enzyme (phosphate-regulating neutral endopeptidase PHEX), predominantly expressed in osteoblasts, osteocytes and teeth (odontoblasts and cementoblasts). XLH is the most common cause of inherited phosphate wasting, with an incidence of 3.9 per 100,000 live births and a prevalence ranging from 1.7 per 100,000 children to 4.8 per 100,000 persons (children and adults) 1-3. Although the pathogenesis of XLH is not fully understood, animal studies indicate that loss of Phex function results in enhanced secretion of the phosphaturic hormone fibroblast growth factor 23 (FGF23), with osteocytes being the primary source of FGF23 production 4. These effects explain most of the characteristic features of the disease, including renal phosphate wasting with consequent hypophosphataemia, diminished synthesis of active vitamin D (1,25(OH) 2 vitamin D), rickets, osteomalacia, odontomalacia and disproportionate short stature 4-6. Patients usually develop clinical symptoms during the first or second year of life. Early treatment with oral phosphate supplementation and active vitamin D heals rickets, limits dental abscess formation and prevents progressive growth failure, but in a substantial proportion of patients treatment is unsuccessful and/or associated with adverse effects (for example, hyper parathyroidism and nephrocalcinosis) 7,8. Up to two-thirds of children with XLH require lower limb surgery 9-12. Conventional therapy further stimulates FGF23 levels and thereby renal phosphate wasting, resulting in a vicious circle, which might limit its efficacy 6,13-15. Adult patients with XLH are at risk of complications such as early osteoarthritis, enthesopathies, spinal stenosis, pseudofractures and hearing loss, which might limit quality of life 16-18. In 2018, burosumab, a fully human monoclonal IgG1 antibody neutralizing FGF23, was approved by health authorities for the treatment of patients with

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Section: Casts Insoles and Physiotherapymentioning

confidence: 99%

Section: Musculoskeletal Symptomsmentioning

confidence: 99%

Section: Musculoskeletal Symptomsmentioning

confidence: 99%

Section: Casts Insoles and Physiotherapymentioning

confidence: 99%

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Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

et al. 2019

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“…When leg deformities persist, the optimal timing of corrective surgery remains uncertain. In a retrospective study, 29% of XLH patients had recurrence of deformity after their first corrective surgery . Although the differences were not significant, those having earlier corrective procedures were more likely to require additional procedures.…”

Section: Medical Managementmentioning

confidence: 99%

Pharmacological management of X‐linked hypophosphataemia

Imel

White

2018

Brit J Clinical Pharma

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The most common heritable disorder of renal phosphate wasting, X-linked hypophosphataemia (XLH), was discovered to be caused by inactivating mutations in the phosphate regulating gene with homology to endopeptidases on the X-chromosome (PHEX) gene in 1995. Although the exact molecular mechanisms by which PHEX mutations cause disturbed phosphate handling in XLH remain unknown, focus for novel therapies has more recently been based upon the finding that the bone-produced phosphaturic hormone fibroblast growth factor-23 is elevated in XLH patient plasma. Previous treatment strategies for XLH were based upon phosphate repletion plus active vitamin D analogues, which are difficult to manage, fail to address the primary pathogenesis of the disease, and can have deleterious side effects. A novel therapy for XLH directly targeting fibroblast growth factor-23 via a humanized monoclonal antibody (burosumab-twza/CRYSVITA, henceforth referred to just as burosumab) has emerged as an effective, and recently approved, pharmacological treatment for both children and adults. This review will provide an overview of the clinical manifestations of XLH, the molecular pathophysiology, and summarize its current treatment.

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Renal Phosphate Wasting Disorders

Lambert,

Linglart

2023

Endocrinology

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Outcomes of orthopedic surgery in a cohort of 49 patients with X-linked hypophosphatemic rickets (XLHR)

Cited by 42 publications

References 23 publications

Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

Pharmacological management of X‐linked hypophosphataemia

Renal Phosphate Wasting Disorders

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