Disease-specific gait deviations in pediatric patients with X-linked hypophosphatemia

Mindler, Gabriel T.; Kranzl, Andreas; Stauffer, Alexandra; Haeusler, Gabriele; Rudolf, G.; Raimann, Adalbert

doi:10.1016/j.gaitpost.2020.07.007

Cited by 22 publications

(46 citation statements)

References 26 publications

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“…In our patient group, the severity of lower limb alignment deviations ranged from normal to severely pathologic ( Figures 6A–D and 7A–D ). Compared to children with XLH who did not receive prior surgical intervention ( 9 ), adults had a lower incidence of valgus deformity and a higher incidence of varus deformity of the lower limb. However, similar rotational abnormalities with signs of a higher external femoral torsion and a lower external tibial torsion were observed during gait.…”

Section: Discussionmentioning

confidence: 96%

“…Lower limb alignment influences thorax movement among patients with XLH ( 9 ). Waddling is described as a disease-specific gait deviation in patients with XLH ( 9 , 10 , 31 ).…”

Section: Discussionmentioning

confidence: 99%

“…Lower limb alignment influences thorax movement among patients with XLH ( 9 ). Waddling is described as a disease-specific gait deviation in patients with XLH ( 9 , 10 , 31 ). However, this term has not been clearly defined, and its use might be inappropriate when considering patients’ demands in the context of the psychosocial aspects of burden of disease.…”

Section: Discussionmentioning

confidence: 99%

“…Gait abnormalities have been a common feature among adults with XLH ( 6 ). In children with XLH who had no prior surgical interventions, a detailed analysis showed femoral and tibial malrotation and maltorsion, varus and valgus deformity of the lower limbs, and compensation mechanisms during gait ( 9 ).…”

Section: Introductionmentioning

confidence: 99%

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Lower Limb Deformity and Gait Deviations Among Adolescents and Adults With X-Linked Hypophosphatemia

et al. 2021

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BackgroundX-linked hypophosphatemia (XLH) is a rare genetic disorder characterized by lower limb deformity, gait and joint problems, and pain. Hence, quality of life is substantially impaired. This study aimed to assess lower limb deformity, specific radiographic changes, and gait deviations among adolescents and adults with XLH.DesignData on laboratory examination and gait analysis results were analyzed retrospectively. Deformities, osteoarthritis, pseudofractures, and enthesopathies on lower limb radiographs were investigated. Gait analysis findings were compared between the XLH group and the control group comprising healthy adults.Patients and ControlsRadiographic outcomes were assessed retrospectively in 43 patients with XLH (28 female, 15 male). Gait analysis data was available in 29 patients with confirmed XLH and compared to a healthy reference cohort (n=76).ResultsPatients with XLH had a lower gait quality compared to healthy controls (Gait deviation index GDI 65.9% +/- 16.2). About 48.3% of the study population presented with a greater lateral trunk lean, commonly referred to as waddling gait. A higher BMI and mechanical axis deviation of the lower limbs were associated with lower gait scores and greater lateral trunk lean. Patients with radiologic signs of enthesopathies had a lower GDI.ConclusionsThis study showed for the first time that lower limb deformity, BMI, and typical features of XLH such as enthesopathies negatively affected gait quality among adolescents and adults with XLH.

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Section: Discussionmentioning

confidence: 96%

“…Lower limb alignment influences thorax movement among patients with XLH ( 9 ). Waddling is described as a disease-specific gait deviation in patients with XLH ( 9 , 10 , 31 ).…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Lower Limb Deformity and Gait Deviations Among Adolescents and Adults With X-Linked Hypophosphatemia

et al. 2021

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“…In brief, mono-allelic mutations or chromosomal derangements affecting the Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) gene on the X chromosome lead to elevated levels of the hormone fibroblast growth factor 23 (FGF23), resulting in renal phosphate wasting, impaired 1a-hydroxylation of 25-hydroxyvitamin D [25(OH)D] to the active hormone calcitriol (1,25-dihydroxyvitamin D [1,25 (OH) 2 D]) and consequently, chronic hypophosphatemia, impaired skeletal mineralization and rickets (9). In children, the corresponding clinical features may include delayed growth and short stature, craniosynostosis and raised intracranial pressure, deformities of weight-bearing limbs, muscle weakness, gait abnormalities (10), tooth abscesses and excessive dental caries (9,11,12).…”

Section: Introductionmentioning

confidence: 99%

Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium

et al. 2021

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X-linked hypophosphatemia (XLH) is the most common genetic form of hypophosphatemic rickets and osteomalacia. In this disease, mutations in the PHEX gene lead to elevated levels of the hormone fibroblast growth factor 23 (FGF23), resulting in renal phosphate wasting and impaired skeletal and dental mineralization. Recently, international guidelines for the diagnosis and treatment of this condition have been published. However, more specific recommendations are needed to provide guidance at the national level, considering resource availability and health economic aspects. A national multidisciplinary group of Belgian experts convened to discuss translation of international best available evidence into locally feasible consensus recommendations. Patients with XLH may present to a wide array of primary, secondary and tertiary care physicians, among whom awareness of the disease should be raised. XLH has a very broad differential-diagnosis for which clinical features, biochemical and genetic testing in centers of expertise are recommended. Optimal care requires a multidisciplinary approach, guided by an expert in metabolic bone diseases and involving (according to the individual patient’s needs) pediatric and adult medical specialties and paramedical caregivers, including but not limited to general practitioners, dentists, radiologists and orthopedic surgeons. In children with severe or refractory symptoms, FGF23 inhibition using burosumab may provide superior outcomes compared to conventional medical therapy with phosphate supplements and active vitamin D analogues. Burosumab has also demonstrated promising results in adults on certain clinical outcomes such as pseudofractures. In summary, this work outlines recommendations for clinicians and policymakers, with a vision for improving the diagnostic and therapeutic landscape for XLH patients in Belgium.

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Asia‐Pacific Consensus Recommendations on X‐Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care

Munns

Yoo

et al. 2023

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X-linked hypophosphatemia (XLH) is a rare, inherited, multisystem disorder characterized by hypophosphatemia that occurs secondary to renal phosphate wasting. Mutations in PHEX gene (located at Xp22.1) in XLH alter bone mineral metabolism, resulting in diverse skeletal, dental, and other extraskeletal abnormalities that become evident in early childhood and persist into adolescence and adult life. XLH impacts physical function, mobility, and quality of life, and is associated with substantial socioeconomic burden and health care resource utilization. As the burden of illness varies with age, an appropriate transition of care from childhood and adolescence to adulthood is necessary to meet growth-related changes and minimize long-term sequelae of the condition. Previous XLH guidelines that encompassed transition of care have focused on Western experience. Regional differences in resource availability warrant tailoring of recommendations to the Asia-Pacific (APAC) context. Hence, a core expert panel of 15 pediatric and adult endocrinologists from nine countries/regions across APAC convened to formulate evidence-based recommendations for optimizing XLH care. A comprehensive literature search on PubMed using MeSH and free-text terms relevant to predetermined clinical questions on diagnosis, multidisciplinary management, and transition of care of XLH revealed 2171 abstracts. The abstracts were reviewed independently by two authors to shortlist a final of 164 articles. A total of 92 full-text articles were finally selected for data extraction and drafting the consensus statements. Sixteen guiding statements were developed based on review of evidence and real-world clinical experience. The GRADE criteria were used to appraise the quality of evidence supporting the statements. Subsequently, a DelphiThis is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

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Disease-specific gait deviations in pediatric patients with X-linked hypophosphatemia

Cited by 22 publications

References 26 publications

Lower Limb Deformity and Gait Deviations Among Adolescents and Adults With X-Linked Hypophosphatemia

Lower Limb Deformity and Gait Deviations Among Adolescents and Adults With X-Linked Hypophosphatemia

Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium

Asia‐Pacific Consensus Recommendations on X‐Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care

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