Evaluation of bone mineral density and microarchitectural parameters by DXA and HR-pQCT in 37 children and adults with X-linked hypophosphatemic rickets

Neto, Garibaldi Perini; Pereira, Rosa Maria Rodrigues; Alvarenga, Jackeline Couto; Takayama, Liliam; Funari, Mariana F A; Martin, Regina Matsunaga

doi:10.1007/s00198-017-3949-8

Cited by 38 publications

(24 citation statements)

References 17 publications

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“…Colares Neto and colleagues (47) in 2017 reported significantly higher lumbar spine BMD in adults, but not in children, with XLH. No significant BMD difference was found at the femoral neck, hip, or distal radius versus healthy controls . Perhaps the difference between axial and appendicular BMD Z ‐scores in adults with XLH reflects extraskeletal calcification due to enthesopathy or spinal osteophytes.…”

Section: Discussionmentioning

confidence: 91%

X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3′-UTR Mutation c.*231A>G (A Retrospective Case–Control Study)

Smith

Gottesman

Zhang

et al. 2020

Journal of Bone and Mineral Research

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X-linked hypophosphatemia (XLH), the most prevalent heritable renal phosphate (Pi) wasting disorder, is caused by deactivating mutations of PHEX. Consequently, circulating phosphatonin FGF23 becomes elevated and hypophosphatemia in affected children leads to rickets with skeletal deformity and reduced linear growth while affected adults suffer from osteomalacia and forms of ectopic mineralization. In 2015, we reported uniquely mild XLH in six children and four of their mothers carrying the non-coding PHEX 3 0 -UTR mutation c.*231A>G. Herein, we characterize this mild XLH variant by comparing its features in 30 individuals to 30 age-and sexmatched patients with XLH but without the 3 0 -UTR mutation. The "UTR" and "XLH" groups, both comprising 17 children (2 to 17 years, 3 girls) and 13 adults (23 to 63 years, 10 women), had mean ages of 23 years. Only 43% of the UTR group versus 90% of the XLH group had received medical treatment for their disorder, including 0% versus 85% of the females, respectively (ps < .0001). The UTR group was taller: mean AE SD height Z-score (HZ) −1.0 AE 1.0 versus −2.0 AE 1.4 (p = .0034), with significantly greater height for females (−0.9 AE 0.7 versus −2.3 AE 1.4; p = .0050) but not males (−1.2 AE 1.1 versus −1.9 AE 1.5; p = .1541), respectively. Mean AE SD "arm span Z-score" (AZ) did not differ between the UTR −0.8 AE 1.3 versus XLH −1.3 AE 1.8 groups (p = .2269). Consequently, the UTR group was more proportionate with a mean ΔZ (AZ -HZ) of 0.1 AE 0.6 versus 0.7 AE 1.0 (p = .0158), respectively. Compared to the XLH group, the UTR group had significantly higher fasting serum Pi and renal tubular threshold maximum for phosphorus per glomerular filtration rate (TmP/GFR) (ps ≤ .0060), serum FGF23 concentrations within the reference range (p = .0068), and similar serum alkaline phosphatase levels (p = .6513). UTR lumbar spine bone mineral density Z-score was higher (p = .0343). Thus, the 3 0 -UTR variant of XLH is distinctly mild, especially in girls and women, posing challenges for its recognition and management.

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Section: Discussionmentioning

confidence: 91%

X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3′-UTR Mutation c.*231A>G (A Retrospective Case–Control Study)

Smith

Gottesman

Zhang

et al. 2020

Journal of Bone and Mineral Research

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“…In aBMD, a size artifact arises, where small bones seem to have lower BMD and large bones higher BMD. Considering the growth disturbances in XLH, DXA results have to be interpreted with caution (16). To account for this size artifact, Carter et al proposed a calculation of bone mineral apparent density (BMAD) to estimate volumetric BMD (vBMD) (7,17).…”

Section: Introductionmentioning

confidence: 99%

“…Beck-Nielsen et al reported that children and adults with XLH have elevated BMAD of the lumbar spine (7). However, Colares Neto et al examined 37 children and adults with XLH stratified by age group and reported that mean aBMD was only elevated in adults (16). DXA interpretation in XLH patients remains complex and results may not accurately portray bone mineralization (7,16).…”

Section: Introductionmentioning

confidence: 99%

“…However, Colares Neto et al examined 37 children and adults with XLH stratified by age group and reported that mean aBMD was only elevated in adults (16). DXA interpretation in XLH patients remains complex and results may not accurately portray bone mineralization (7,16). Factors such as anthropometric data or presence of enthesopathies can influence aBMD (6,7).…”

Section: Introductionmentioning

confidence: 99%

“…High-resolution peripheral quantitative computed tomography (HR-pQCT) can be used to assess bone geometry, bone microarchitecture, and compartment-specific volumetric bone mineral density (vBMD) at the distal radius and the distal tibia (18). Until now, the literature on HR-pQCT in patients with XLH remains limited (16,19). Colares Neto et al examined bone mineral density and microarchitecture by HR-pQCT and found that XLH patients had lower trabecular vBMD and thus lower total vBMD, especially at the load-bearing distal tibia.…”

Section: Introductionmentioning

confidence: 99%

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Decreased Compressional Sound Velocity Is an Indicator for Compromised Bone Stiffness in X-Linked Hypophosphatemic Rickets (XLH)

et al. 2020

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Objectives: To assess the diagnostic potential of bidirectional axial transmission (BDAT) ultrasound, and high-resolution peripheral quantitative computed tomography (HR-pQCT) in X-linked hypophosphatemia (XLH, OMIM #307800), a rare genetic disorder of phosphate metabolism caused by mutations in the PHEX gene.Methods: BDAT bone ultrasound was performed at the non-dominant distal radius (33% relative to distal head) and the central left tibia (50%) in eight XLH patients aged between 4.2 and 20.8 years and compared to twenty-nine healthy controls aged between 5.8 and 22.4 years. In eighteen controls, only radius measurements were performed. Four patients and four controls opted to participate in HR-pQCT scanning of the ultradistal radius and tibia.Results: Bone ultrasound was feasible in patients and controls as young as 4 years of age. The velocity of the first arriving signal (ν FAS ) in BDAT ultrasound was significantly lower in XLH patients compared to healthy controls: In the radius, mean ν FAS of XLH patients and controls was 3599 ± 106 and 3866 ± 142 m/s, respectively (−6.9%; p < 0.001). In the tibia, it was 3578 ± 129 and 3762 ± 124 m/s, respectively (−4.9%; p = 0.006). HR-pQCT showed a higher trabecular thickness in the tibia of XLH patients (+16.7%; p = 0.021).Conclusions: Quantitative bone ultrasound revealed significant differences in cortical bone quality of young XLH patients as compared to controls. Regular monitoring of XLH patients by a radiation-free technology such as BDAT might provide valuable information on bone quality and contribute to the optimization of treatment. Further studies are needed to establish this affordable and time efficient method in the XLH patients.

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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

JBMR Plus

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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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Evaluation of bone mineral density and microarchitectural parameters by DXA and HR-pQCT in 37 children and adults with X-linked hypophosphatemic rickets

Cited by 38 publications

References 17 publications

X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3′-UTR Mutation c.*231A>G (A Retrospective Case–Control Study)

X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3′-UTR Mutation c.*231A>G (A Retrospective Case–Control Study)

Decreased Compressional Sound Velocity Is an Indicator for Compromised Bone Stiffness in X-Linked Hypophosphatemic Rickets (XLH)

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

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Evaluation of bone mineral density and microarchitectural parameters by DXA and HR-pQCT in 37 children and adults with X-linked hypophosphatemic rickets

Cited by 38 publications

References 17 publications

X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3′-UTR Mutation c.*231A&gt;G (A Retrospective Case–Control Study)

X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3′-UTR Mutation c.*231A&gt;G (A Retrospective Case–Control Study)

Decreased Compressional Sound Velocity Is an Indicator for Compromised Bone Stiffness in X-Linked Hypophosphatemic Rickets (XLH)

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

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X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3′-UTR Mutation c.*231A>G (A Retrospective Case–Control Study)

X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3′-UTR Mutation c.*231A>G (A Retrospective Case–Control Study)