Dual-Energy X-Ray Absorptiometry Interpretation: A Simple Equation for Height Correction in Preteenage Children

Zhang, Fan; Whyte, Michael P.; Wenkert, Deborah

doi:10.1016/j.jocd.2012.01.004

Cited by 15 publications

(6 citation statements)

References 22 publications

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“…For the females, there was no significant difference between the groups ( p = .7847). Our height correction for DXA BMD Z ‐scores was not undertaken because of the disproportionate stature of the XLH group that would compromise comparison …”

Section: Resultsmentioning

confidence: 99%

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: Resultsmentioning

confidence: 99%

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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“…Two-dimensional measurements of the skeleton via DXA can underestimate BMD in shorter individuals and overestimate BMD in tall individuals (Zhang et al 2012), since DXA measurements do not fully account for body size. All three BMD studies reported weight in PKU and control subjects, but only two studies reported height.…”

Section: Resultsmentioning

confidence: 99%

“…Although authors still found that BMD was lower in PKU subjects, experts acknowledge that measurement of BMD in short individuals can underestimate BMD. Future studies of BMD in PKU subjects should correct measurements for height, using published equations developed for this purpose (Zhang et al 2012). …”

Section: Discussionmentioning

confidence: 99%

A systematic review of bone mineral density and fractures in phenylketonuria

Hansen

Ney²

2014

J of Inher Metab Disea

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Introduction Our objective was to systematically review and analyze published data on bone mineral density (BMD) and fracture rates in patients with phenylketonuria (PKU), and relationships between BMD and phenylalanine levels. Methodology We searched PubMed, CINAHL and Cochrane databases from January 1966 to November 2013 for studies of spine BMD or fracture in PKU and control subjects. We excluded studies assessing skeletal health by ultrasound or peripheral quantitative computer tomography. Both authors reviewed abstracts for inclusion, and read full text papers to extract data. Results Sixteen studies met eligibility criteria. Meta-analysis of 3 studies found that spine BMD was 0.100 g/cm2 lower (95% CI, −0.110, −0.090 g/cm2) in 67 subjects with PKU, compared to 161 controls. Among 6 studies, 20% (53 of 263) of PKU subjects experienced clinical fractures. In the single study with controls, the fracture rate was 2.6 fold higher (95% CI, 1.1–6.1) after age 8 in PKU subjects, compared to healthy sibling controls. When considering a total of 12 studies in 412 subjects, 9 or 75% of studies representing 71% of studied subjects reported no association between phenylalanine levels and BMD. Summary Spine BMD is lower in PKU than control subjects, but only one study controlled for smaller body size. Existing studies suggest a clinical fracture rate of 20% among PKU subjects, but fracture rates in controls are lacking. Finally, existing data shows no consistent relationship between phenylalanine levels and BMD. Future studies are needed to clarify the etiology and health consequences of low BMD in PKU.

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“…Dual-energy X-ray absorptiometry for subject 1 showed a lumbar spine BMD Z-score of +8.1 at 2 years of age, and +11.9 at 5 years of age. Because she has short stature, these greatly elevated bone density scores are actually underestimates (6).…”

Section: Resultsmentioning

confidence: 99%

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

Campeau¹,

Lu²,

Sule³

et al. 2012

Human Molecular Genetics

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Dysosteosclerosis (DSS) is the form of osteopetrosis distinguished by the presence of skin findings such as red-violet macular atrophy, platyspondyly and metaphyseal osteosclerosis with relative radiolucency of widened diaphyses. At the histopathological level, there is a paucity of osteoclasts when the disease presents. In two patients with DSS, we identified homozygous or compound heterozygous missense mutations in SLC29A3 by whole-exome sequencing. This gene encodes a nucleoside transporter, mutations in which cause histiocytosis-lymphadenopathy plus syndrome, a group of conditions with little or no skeletal involvement. This transporter is essential for lysosomal function in mice. We demonstrate the expression of Slc29a3 in mouse osteoclasts in vivo. In monocytes from patients with DSS, we observed reduced osteoclast differentiation and function (demineralization of calcium surface). Our report highlights the pleomorphic consequences of dysfunction of this nucleoside transporter, and importantly suggests a new mechanism for the control of osteoclast differentiation and function.

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Dual-Energy X-Ray Absorptiometry Interpretation: A Simple Equation for Height Correction in Preteenage Children

Cited by 15 publications

References 22 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)

A systematic review of bone mineral density and fractures in phenylketonuria

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

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Dual-Energy X-Ray Absorptiometry Interpretation: A Simple Equation for Height Correction in Preteenage Children

Cited by 15 publications

References 22 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)

A systematic review of bone mineral density and fractures in phenylketonuria

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

Contact Info

Product

Resources

About

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)