{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T17:12:00Z","timestamp":1790615520892,"version":"4.1.0"},"reference-count":57,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2022,1,5]],"date-time":"2022-01-05T00:00:00Z","timestamp":1641340800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Cystinosis Metabolic Bone Disease (CMBD) has emerged during the last decade as a well-recognized, long-term complication in patients suffering from infantile nephropathic cystinosis (INC), resulting in significant morbidity and impaired quality of life in teenagers and adults with INC. Its underlying pathophysiology is complex and multifactorial, associating complementary, albeit distinct entities, in addition to ordinary mineral and bone disorders observed in other types of chronic kidney disease. Amongst these long-term consequences are renal Fanconi syndrome, hypophosphatemic rickets, malnutrition, hormonal abnormalities, muscular impairment, and intrinsic cellular bone defects in bone cells, due to CTNS mutations. Recent research data in the field have demonstrated abnormal mineral regulation, intrinsic bone defects, cysteamine toxicity, muscle wasting and, likely interleukin-1-driven inflammation in the setting of CMBD. Here we summarize these new pathophysiological deregulations and discuss the crucial interplay between bone and muscle in INC. In future, vitamin D and\/or biotherapies targeting the IL1\u03b2 pathway may improve muscle wasting and subsequently CMBD, but this remains to be proven.<\/jats:p>","DOI":"10.3390\/cells11010170","type":"journal-article","created":{"date-parts":[[2022,1,5]],"date-time":"2022-01-05T20:42:16Z","timestamp":1641415336000},"page":"170","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Muscle and Bone Impairment in Infantile Nephropathic Cystinosis: New Concepts"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9601-7813","authenticated-orcid":false,"given":"Dieter","family":"Haffner","sequence":"first","affiliation":[{"name":"Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, Germany"},{"name":"Pediatric Research Center, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9203-7622","authenticated-orcid":false,"given":"Maren","family":"Leifheit-Nestler","sequence":"additional","affiliation":[{"name":"Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, Germany"},{"name":"Pediatric Research Center, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Candide","family":"Alioli","sequence":"additional","affiliation":[{"name":"INSERM Research Unit 1033, Pathophysiology of Bone Disease, Facult\u00e9 de M\u00e9decine Lyon Est, Universit\u00e9 de Lyon, Rue Guillaume Paradin, 69008 Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justine","family":"Bacchetta","sequence":"additional","affiliation":[{"name":"INSERM Research Unit 1033, Pathophysiology of Bone Disease, Facult\u00e9 de M\u00e9decine Lyon Est, Universit\u00e9 de Lyon, Rue Guillaume Paradin, 69008 Lyon, France"},{"name":"Reference Center for Rare Renal Diseases, Reference Center for Rare Diseases of Calcium and Phosphate Metabolism, Pediatric Nephrology, Rheumatology and Dermatology Unit, H\u00f4pital Femme M\u00e8re Enfant, Boulevard Pinel, 69500 Bron, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,1,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1038\/ng0498-319","article-title":"A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis","volume":"18","author":"Town","year":"1998","journal-title":"Nat. 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