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  • Title: Co-existence of X-linked hypophosphatemic rickets (XLH) and primary hyperparathyroidism: case report and review of the literature.
    Author: Tournis ST, Giannikou PV, Paspati IN, Katsalira EA, Voskaki IC, Lyritis GP.
    Journal: J Musculoskelet Neuronal Interact; 2005 Jun; 5(2):150-4. PubMed ID: 15951631.
    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.
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