Hyperparathyroidism in Patients With X-Linked Hypophosphatemia.
X-linked hypophosphatemia (XLH) is characterized by increased activity of circulating FGF23 resulting in renal phosphate wasting and abnormal bone mineralization. Hyperparathyroidism may develop in XLH patients; however, its prevalence, pathogenesis, and clinical presentation are not documented. This observational study (CNIL 171036 v 0) recruited XLH adult patients in a single tertiary referral center. Each patient was explored in standardized conditions and compared with two healthy volunteers, matched for sex, age, and 25-OH vitamin D concentrations. The primary endpoint was the proportion of patients with hyperparathyroidism. The secondary endpoints were the factors influencing serum parathyroid hormone (PTH) concentrations and the prevalence of hypercalcemic hyperparathyroidism. Sixty-eight patients (51 women, 17 men) were enrolled and matched with 136 healthy volunteers. Patients had higher PTH concentrations compared with healthy controls (53.5 ng/L, interquartile range [IQR] 36.7-72.7 versus 36.0 ng/L, IQR 27.7-44.0, p < .0001). Hyperparathyroidism was observed in 17 patients of 68 (25%). In patients, a positive relationship between PTH and calcium concentrations and a negative relationship between PTH and phosphate concentrations were observed. Seven (10%) patients (3 premenopausal women, 1 postmenopausal woman, and 3 men) were diagnosed with hypercalcemic hyperparathyroidism. All underwent parathyroid surgery, with consecutive normalization of calcium and PTH concentrations. Hyperparathyroidism is a frequent complication in XLH adult patients. Disruption of the physiological regulation of PTH secretion contributes to parathyroid disease. Early-onset hypercalcemic hyperparathyroidism can be effectively and safely cured by surgical resection. © 2020 American Society for Bone and Mineral Research.
['Lecoq|Anne-Lise|AL|', 'Chaumet-Riffaud|Philippe|P|', 'Blanchard|Anne|A|', 'Dupeux|Margot|M|', 'Rothenbuhler|Anya|A|', 'Lambert|Benoit|B|', 'Durand|Emmanuel|E|', 'Boros|Erika|E|', 'Briot|Karine|K|', 'Silve|Caroline|C|', 'Francou|Bruno|B|', 'Piketty|Marie|M|', 'Chanson|Philippe|P|', 'Brailly-Tabard|Sylvie|S|', 'Linglart|Agnès|A|', 'Kamenický|Peter|P|']
D000328:Adult D002118:Calcium D053098:Familial Hypophosphatemic Rickets D005260:Female D000089703:Fibroblast Growth Factor-23 D006801:Humans D006961:Hyperparathyroidism D008297:Male D010281:Parathyroid Hormone D010710:Phosphates D014807:Vitamin D
HYPERPARATHYROIDISM X-LINKED HYPOPHOSPHATEMIA FGF23 PARATHYROID HORMONE PHEX