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J Musculoskelet Neuronal Interact., 2005; 5(2): 150-4, PMID: 15951631

Co-existence of X-linked hypophosphatemic rickets (XLH) and primary hyperparathyroidism: case report and review of the literature

Jahr: 2005

Tournis ST, Giannikou PV, Paspati IN, Katsalira EA, Voskaki IC, Lyritis GP
Laboratory for the Research of the Musculoskeletal System "Th. Garofalidis", University of Athens, School of Medicine, Athens, Greece.


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.

GID: 1164; Letzte Änderung: 03.03.2008
Weitere Informationen: Original Article