Nephropathic Cystinosis: A Distinct Form of CKD-Mineral and Bone Disorder that Provides Novel Insights into the Regulation of FGF23

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dc.contributor.authorFlorenzano, Pablo
dc.contributor.authorJimenez, Macarena
dc.contributor.authorFerreira, Carlos R.
dc.contributor.authorNesterova, Galina
dc.contributor.authorRoberts, Mary Scott
dc.contributor.authorTella, Sri Harsha
dc.contributor.authorFernandez de Castro, Luis
dc.contributor.authorGafni, Rachel I.
dc.contributor.authorWolf, Myles
dc.contributor.authorJuppner, Harald
dc.contributor.authorGales, Barbara
dc.contributor.authorWesseling-Perry, Katherine
dc.contributor.authorMarkovich, Daniela
dc.contributor.authorGahl, William A.
dc.contributor.authorSalusky, Isidro B.
dc.contributor.authorCollins, Michael T.
dc.date.accessioned2025-01-23T19:48:04Z
dc.date.available2025-01-23T19:48:04Z
dc.date.issued2020
dc.description.abstractBackground The rare lysosomal storage disease nephropathic cystinosis presents with renal Fanconi syndrome that evolves in time to CKD. Although biochemical abnormalities in common causes of CKD-mineral and bone disorder have been defined, it is unknown if persistent phosphate wasting in nephropathic cystinosis is associated with a biochemical mineral pattern distinct from that typically observed in CKD-mineral and bone disorder.
dc.description.abstractMethods We assessed and compared determinants of mineral homeostasis in patients with nephropathic cystinosis across the predialysis CKD spectrum to these determinants in age- and CKD stage-matched patients, with causes of CKD other than nephropathic cystinosis.
dc.description.abstractResults The study included 50 patients with nephropathic cystinosis-related CDK and 97 with CKD from other causes. All major aspects of mineral homeostasis were differentially effected in patients with CKD stemming from nephropathic cystinosis versus other causes. Patients with nephropathic cystinosis had significantly lower percent tubular reabsorption of phosphate and fibroblast growth factor-23 (FGF23) at all CKD stages, and lower blood phosphate in CKD stages 3-5. Linear regression analyses demonstrated lower FGF23 levels in nephropathic cystinosis participants at all CKD stages when corrected for eGFR and age, but not when adjusted for serum phosphate.
dc.description.abstractConclusions Nephropathic cystinosis CKD patients have mineral abnormalities that are distinct from those in CKD stemming from other causes. Persistently increased urinary phosphate excretion maintains serum phosphate levels within the normal range, thus protecting patients with nephropathic cystinosis from elevations of FGF23 during early CKD stages. These findings support the notion that phosphate is a significant driver of increased FGF23 levels in CKD and that mineral abnormalities associated with CKD are likely to vary depending on the underlying renal disease.
dc.fuente.origenWOS
dc.identifier.doi10.1681/ASN.2019111172
dc.identifier.eissn1533-3450
dc.identifier.issn1046-6673
dc.identifier.urihttps://doi.org/10.1681/ASN.2019111172
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/100425
dc.identifier.wosidWOS:000571810200020
dc.issue.numero9
dc.language.isoen
dc.pagina.final2192
dc.pagina.inicio2184
dc.revistaJournal of the american society of nephrology
dc.rightsacceso restringido
dc.subjectchronic kidney disease
dc.subjectmineral and bone disorder
dc.subjectFanconi syndrome
dc.subjectFGF23
dc.subjectnephropathic cystinosis
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleNephropathic Cystinosis: A Distinct Form of CKD-Mineral and Bone Disorder that Provides Novel Insights into the Regulation of FGF23
dc.typeartículo
dc.volumen31
sipa.indexWOS
sipa.trazabilidadWOS;2025-01-12
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