title: Cinacalcet in hyperparathyroidism secondary to X-linked hypophosphatemic rickets: case report and brief literature review.
abstract: X-linked dominant hypophosphatemic rickets (XLH) is the most prevalent genetic form of hypophosphatemic rickets. Standard treatment of XLH patients includes long-term administration of phosphate and calcitriol. Treated patients usually respond well to the conventional therapy and demonstrate amelioration of rachitic symptoms and improved growth. However, long-term administration of phosphate and vitamin D preparations is sometimes complicated with nephrocalcinosis, secondary or tertiary hyperparathyroidism and arterial hypertension. We describe a patient with XLH, caused by a rare missense mutation of the PHEX gene. The patient, while under treatment with alphacalcidol and oral phosphate, developed hypercalciuria, nephrocalcinosis, secondary hyperparathyroidism and arterial hypertension. Cinacalcet was added to the therapeutic regimen and the long-term effects on calciotropic parameters and FGF23 levels are herein reported.
authors.affiliation: Endocrinology and Metabolism Division, AUTH, Thessaloniki, Greece. margia@med.auth.gr
authors.forename: Maria P
authors.initials: MP
authors.lastname: Yavropoulou
authors.forename: Kalliopi
authors.initials: K
authors.lastname: Kotsa
authors.forename: Anna
authors.initials: A
authors.lastname: Gotzamani Psarrakou
authors.forename: Alphalexandra
authors.initials: A
authors.lastname: Papazisi
authors.forename: Tauheoni
authors.initials: T
authors.lastname: Tranga
authors.forename: Stelios
authors.initials: S
authors.lastname: Ventis
authors.forename: John G
authors.initials: JG
authors.lastname: Yovos
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000097:blood; D050071:Bone Density Conservation Agents / Q000009:adverse effects*; D002112:Calcifediol / Q000097:blood; D002118:Calcium / Q000097:blood; D000069449:Cinacalcet; D053098:Familial Hypophosphatemic Rickets / Q000150:complications / Q000188:drug therapy*; D005260:Female; D000089703:Fibroblast Growth Factor-23; D005346:Fibroblast Growth Factors / Q000097:blood; D040181:Genetic Diseases, X-Linked; D006801:Humans; D006887:Hydroxycholecalciferols / Q000009:adverse effects*; D006962:Hyperparathyroidism, Secondary / Q000097:blood / Q000139:chemically induced / Q000188:drug therapy*; D006973:Hypertension / Q000139:chemically induced / Q000188:drug therapy; D020125:Mutation, Missense; D009281:Naphthalenes / Q000627:therapeutic use*; D053402:PHEX Phosphate Regulating Neutral Endopeptidase / Q000235:genetics; D010281:Parathyroid Hormone / Q000097:blood; D010710:Phosphates / Q000009:adverse effects*; D016896:Treatment Outcome
chemical_list: D015415:Biomarkers; D050071:Bone Density Conservation Agents; C000717427:FGF23 protein, human; D006887:Hydroxycholecalciferols; D009281:Naphthalenes; C470125:PTH protein, human; D010281:Parathyroid Hormone; D010710:Phosphates; D005346:Fibroblast Growth Factors; D000089703:Fibroblast Growth Factor-23; D053402:PHEX Phosphate Regulating Neutral Endopeptidase; C506231:PHEX protein, human; D002112:Calcifediol; D002118:Calcium; D000069449:Cinacalcet; C008088:alfacalcidol