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dc.contributor.authorHohenfellner, Katharina
dc.contributor.authorRauch, Frank
dc.contributor.authorAriceta, Gema
dc.contributor.authorAwan, Atif
dc.contributor.authorBacchetta, Justine
dc.contributor.authorBergmann, Carsten
dc.contributor.authorBechtold, Susanne
dc.contributor.authorCassidy, Noelle
dc.contributor.authorDeschenes, Geroges
dc.contributor.authorElenberg, Ewa
dc.contributor.authorGahl, William A.
dc.contributor.authorGreil, Oliver
dc.contributor.authorHarms, Erik
dc.contributor.authorHerzig, Nadine
dc.contributor.authorHoppe, Bernd
dc.contributor.authorKoeppl, Christian
dc.contributor.authorLewis, Malcolm A.
dc.contributor.authorLevtchenko, Elena
dc.contributor.authorNesterova, Galina
dc.contributor.authorSantos, Fernando
dc.contributor.authorSchlingmann, Karl P.
dc.contributor.authorServais, Aude
dc.contributor.authorSoliman, Neveen A.
dc.contributor.authorSteidle, Guenther
dc.contributor.authorSweeney, Clodagh
dc.contributor.authorTreikauskas, Ulrike
dc.contributor.authorTopaloglu, Rezan
dc.contributor.authorTsygin, Alexey
dc.contributor.authorVeys, Koenraad
dc.contributor.authorvon Vigier, Rodo
dc.contributor.authorZustin, Jozef
dc.contributor.authorHaffner, Dieter
dc.date.accessioned2021-06-02T10:39:50Z
dc.date.available2021-06-02T10:39:50Z
dc.date.issued2019
dc.identifier.issn0141-8955
dc.identifier.urihttp://dx.doi.org/10.1002/jimd.12134
dc.identifier.urihttp://hdl.handle.net/11655/23826
dc.description.abstractCystinosis is an autosomal recessive storage disease due to impaired transport of cystine out of lysosomes. Since the accumulation of intracellular cystine affects all organs and tissues, the management of cystinosis requires a specialized multidisciplinary team consisting of pediatricians, nephrologists, nutritionists, ophthalmologists, endocrinologists, neurologists' geneticists, and orthopedic surgeons. Treatment with cysteamine can delay or prevent most clinical manifestations of cystinosis, except the renal Fanconi syndrome. Virtually all individuals with classical, nephropathic cystinosis suffer from cystinosis metabolic bone disease (CMBD), related to the renal Fanconi syndrome in infancy and progressive chronic kidney disease (CKD) later in life. Manifestations of CMBD include hypophosphatemic rickets in infancy, and renal osteodystrophy associated with CKD resulting in bone deformities, osteomalacia, osteoporosis, fractures, and short stature. Assessment of CMBD involves monitoring growth, leg deformities, blood levels of phosphate, electrolytes, bicarbonate, calcium, and alkaline phosphatase, periodically obtaining bone radiographs, determining levels of critical hormones and vitamins, such as thyroid hormone, parathyroid hormone, 25(OH) vitamin D, and testosterone in males, and surveillance for nonrenal complications of cystinosis such as myopathy. Treatment includes replacement of urinary losses, cystine depletion with oral cysteamine, vitamin D, hormone replacement, physical therapy, and corrective orthopedic surgery. The recommendations in this article came from an expert meeting on CMBD that took place in Salzburg, Austria, in December 2016.
dc.language.isoen
dc.relation.isversionof10.1002/jimd.12134
dc.rightsAttribution 4.0 United States
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectchronic kidney disease
dc.subjectCKD-MBD
dc.subjectcystinosis
dc.subjectcystinosis metabolic bone disease
dc.subjectFanconi syndrome
dc.subjecthypophosphatemic rickets
dc.subjecttransplantation
dc.titleManagement Of Bone Disease In Cystinosis: Statement From An International Conference
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.relation.journalJournal Of Inherited Metabolic Disease
dc.contributor.departmentÇocuk Sağlığı ve Hastalıkları
dc.identifier.volume42
dc.identifier.issue5
dc.description.indexWoS
dc.description.indexScopus


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Attribution 4.0 United States
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