Nephrocalcinosis and kidney function in children and adults with X-linked hypophosphatemia: baseline results from a large longitudinal study

dc.contributor.authorPortale, Anthony A.
dc.contributor.authorWard, Leanne
dc.contributor.authorDahir, Kathryn
dc.contributor.authorFlorenzano, Pablo
dc.contributor.authorIng, Steven W.
dc.contributor.authorde Beur, Suzanne M. Jan
dc.contributor.authorMartin, Regina M.
dc.contributor.authorMeza-Martinez, Adriana, I
dc.contributor.authorPaloian, Neil
dc.contributor.authorAshraf, Ambika
dc.contributor.authorDixon, Bradley P.
dc.contributor.authorKhan, Aliya
dc.contributor.authorLangman, Craig
dc.contributor.authorChen, Angel
dc.contributor.authorWang, Christine
dc.contributor.authorRoberts, Mary Scott
dc.contributor.authorTandon, P. K.
dc.contributor.authorBedrosian, Camille
dc.contributor.authorImel, Erik A.
dc.date.accessioned2025-01-20T16:09:09Z
dc.date.available2025-01-20T16:09:09Z
dc.date.issued2024
dc.description.abstractBackground In patients with X-linked hypophosphatemia (XLH), conventional therapy with oral phosphate salts and active vitamin D has been associated with nephrocalcinosis. However, the nature of the relationships among XLH, its treatment, nephrocalcinosis, and kidney function remain poorly understood. MethodsRenal ultrasounds were performed and glomerular filtration rates were estimated (eGFR) at baseline in burosumab-na & iuml;ve patients with XLH who participated in burosumab clinical trials (NCT02181764, NCT02526160, NCT02537431, NCT02163577, NCT02750618, NCT02915705) or enrolled in the XLH Disease Monitoring Program (XLH-DMP; NCT03651505). In this cross-sectional analysis, patient, disease, and treatment characteristics were described among patients with and without nephrocalcinosis. Results The analysis included 196 children (mean [SD] age 7.6 [4.0] yr) and 318 adults (40.3 [13.1] yr). Mean (SD) height z-score was -1.9 (1.2) for children and -2.3 (1.7) for adults. Nearly all children (97%) and adults (94%) had previously received conventional therapy. Nephrocalcinosis was detected in 22% of children and 38% of adults. In children, reduced eGFR <90 mL/min/1.73 m(2) was more prevalent in those with nephrocalcinosis (25%) than in those without (11%), a finding that was not observed in adults. Children with nephrocalcinosis had lower mean values of TmP/GFR (p<.05), serum 1,25(OH)(2)D (p<.05), and eGFR (p<.001) and higher mean serum calcium concentrations (p<.05) than did those without nephrocalcinosis. Adults with nephrocalcinosis had lower mean serum phosphorus (p<.01) and 1,25(OH)(2)D (p<.05) concentrations than those without. Exploratory logistic regression analyses revealed no significant associations between the presence of nephrocalcinosis and other described patient or disease characteristics. Conclusions Nephrocalcinosis was observed in nearly one-quarter of children and more than one-third of adults with XLH. Further study is needed to better understand the predictors and long-term consequences of nephrocalcinosis, with surveillance for nephrocalcinosis remaining important in the management of XLH.
dc.description.funderUltragenyx Pharmaceutical Inc
dc.fuente.origenWOS
dc.identifier.doi10.1093/jbmr/zjae127
dc.identifier.eissn1523-4681
dc.identifier.issn0884-0431
dc.identifier.urihttps://doi.org/10.1093/jbmr/zjae127
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/90134
dc.identifier.wosidWOS:001308112800001
dc.issue.numero10
dc.language.isoen
dc.pagina.final1502
dc.pagina.inicio1493
dc.revistaJournal of bone and mineral research
dc.rightsacceso restringido
dc.subjectX-linked hypophosphatemia
dc.subjectrenal function
dc.subjectactive vitamin D
dc.subjectphosphate
dc.subjectnephrocalcinosis
dc.subjecthyperparathyroidism
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleNephrocalcinosis and kidney function in children and adults with X-linked hypophosphatemia: baseline results from a large longitudinal study
dc.typeartículo
dc.volumen39
sipa.indexWOS
sipa.trazabilidadWOS;2025-01-12
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