{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T20:38:33Z","timestamp":1694464713946},"reference-count":12,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2015,6,8]],"date-time":"2015-06-08T00:00:00Z","timestamp":1433721600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,10]]},"abstract":"<jats:sec><jats:label \/><jats:p>We report on a boy who presented with hypophosphatemic rickets with elevated serum fibroblast growth factor 23 (FGF23) and polyostotic osteolytic lesions at age 2 years. Tumor\u2010induced hypophosphatemic rickets was suspected; however, bone biopsy for osteolytic changes revealed no tumorous change, except for irregularly dilated vessels associated with osteoclasts and fibrous proliferation. Venous sampling failed to point to FGF23\u2010producing foci. After alfacalcidol and phosphate supplementation, the rachitic skeletal changes improved, but FGF23 increased and new osteolytic lesions developed. Serum levels of neopterin and a few cytokines, including plasma transforming growth factor\u2010\u03b2 and soluble tumor necrosis factor receptor type II, were elevated. At age 4 years, high doses of phosphate resulted in increased serum phosphate levels, decreased neopterin and cytokines, decreased FGF23, and stabilization of osteolysis. We excluded germline mutations in <jats:italic>PHEX, FGF23, DMP1<\/jats:italic>, and <jats:italic>ENPP1<\/jats:italic> (genes for hereditary hypophosphatemic rickets) and somatic mutations in the <jats:italic>GNAS<\/jats:italic> and <jats:italic>HRAS\/KRAS<\/jats:italic> (the disease\u2010causing genes for McCune\u2010Albright syndrome and linear nevus sebaceous syndrome, respectively). We could not perform octreotide scintigraphy or fluorodeoxyglucose\u2010positron emission tomography, and thus could not completely exclude occult FGF23\u2010producing tumors. However, considering the course of the disease, it is intriguing to assume that dysregulation of osteoclast\u2010macrophage lineage may have induced increased neopterin levels, increased cytokine levels, osteolytic process, and possibly FGF23 overproduction. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37193","type":"journal-article","created":{"date-parts":[[2015,6,11]],"date-time":"2015-06-11T03:20:13Z","timestamp":1433992813000},"page":"2430-2434","source":"Crossref","is-referenced-by-count":1,"title":["Polyostotic osteolysis and hypophosphatemic rickets with elevated serum fibroblast growth factor 23: A case report"],"prefix":"10.1002","volume":"167","author":[{"given":"Takeshi","family":"Sato","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Metabolism Kanagawa Children's Medical Center Yokohama Japan"},{"name":"Department of Pediatrics Keio University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koji","family":"Muroya","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Kanagawa Children's Medical Center Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yumi","family":"Asakura","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Kanagawa Children's Medical Center Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akihiro","family":"Yachie","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences Kanazawa University Kanazawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Department of Radiology Tokyo Metropolitan Children's Medical Center Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noriko","family":"Aida","sequence":"additional","affiliation":[{"name":"Department of Radiology Kanagawa Children's Medical Center Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiro","family":"Machida","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery Kanagawa Children's Medical Center Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yukichi","family":"Tanaka","sequence":"additional","affiliation":[{"name":"Department of Pathology Kanagawa Children's Medical Center Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomonobu","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Keio University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masanori","family":"Adachi","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Kanagawa Children's Medical Center Yokohama 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