Cinacalcet in hyperparathyroidism secondary to X-linked hypophosphatemic rickets: case report and brief literature review

Autor: John G. Yovos, Alphalexandra Papazisi, Kalliopi Kotsa, Maria P. Yavropoulou, Anna Gotzamani Psarrakou, Tauheoni Tranga, Stelios Ventis
Rok vydání: 2010
Předmět:
Adult
medicine.medical_specialty
Cinacalcet
Endocrinology
Diabetes and Metabolism
Mutation
Missense
Naphthalenes
Tertiary hyperparathyroidism
Gastroenterology
Phosphates
Internal medicine
medicine
Humans
Hypercalciuria
Biological Markers/blood
Calcifediol
Hyperparathyroidism
Bone Density Conservation Agents
Hydroxycholecalciferols
business.industry
Calcium/blood
Calcifediol/blood
Fibroblast Growth Factors/blood
Genetic Diseases
X-Linked
General Medicine
medicine.disease
PHEX Phosphate Regulating Neutral Endopeptidase
Fibroblast Growth Factors
Familial Hypophosphatemic Rickets
Fibroblast Growth Factor-23
Hypophosphatemic Rickets
Treatment Outcome
Endocrinology
Bone Density Conservation Agents/*adverse effects
Hydroxycholecalciferols/*adverse effects
Parathyroid Hormone
Hypertension
Hyperparathyroidism
Secondary/blood/chemica
Calcium
Female
Hyperparathyroidism
Secondary
Secondary hyperparathyroidism
Nephrocalcinosis
business
Biomarkers
medicine.drug
Zdroj: HORMONES. 9:274-278
ISSN: 1109-3099
DOI: 10.14310/horm.2002.1277
Popis: 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. Hormones (Athens)
Databáze: OpenAIRE
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