title: Co-existence of X-linked hypophosphatemic rickets (XLH) and primary hyperparathyroidism: case report and review of the literature.
abstract: X-linked hypophosphatemic rickets (XLH) is a dominant disorder characterized by hypophosphatemia due to impaired renal tubular reabsorption of inorganic phosphate. Cardinal manifestations include defective calcification of cartilage and bone, growth retardation and resistance to phosphorus and vitamin D therapy. Although secondary hyperparathyroidism (HPT) is a common complication of treatment, autonomous HPT is rare, especially in the absence of previous phosphate therapy. We report a case of an adult untreated male XLH patient with primary HPT and give a brief review of the literature regarding the prevalence and pathophysiology of this complication.
authors.affiliation: Laboratory for the Research of the Musculoskeletal System 'Th. Garofalidis', University of Athens, School of Medicine, Athens, Greece. stournis@med.uoa.gr
authors.forename: S T
authors.initials: ST
authors.lastname: Tournis
authors.forename: P V
authors.initials: PV
authors.lastname: Giannikou
authors.forename: I N
authors.initials: IN
authors.lastname: Paspati
authors.forename: E A
authors.initials: EA
authors.lastname: Katsalira
authors.forename: I C
authors.initials: IC
authors.lastname: Voskaki
authors.forename: G P
authors.initials: GP
authors.lastname: Lyritis
mesh_terms: D006801:Humans; D006961:Hyperparathyroidism / Q000150:complications* / Q000503:physiopathology* / Q000601:surgery; D007015:Hypophosphatemia, Familial / Q000150:complications* / Q000503:physiopathology*; D008297:Male; D008875:Middle Aged; D010281:Parathyroid Hormone / Q000097:blood
chemical_list: D010281:Parathyroid Hormone