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Hyperparathyroidism in Patients With X‐Linked Hypophosphatemia
Author(s) -
Lecoq AnneLise,
ChaumetRiffaud Philippe,
Blanchard Anne,
Dupeux Margot,
Rothenbuhler Anya,
Lambert Benoit,
Durand Emmanuel,
Boros Erika,
Briot Karine,
Silve Caroline,
Francou Bruno,
Piketty Marie,
Chanson Philippe,
BraillyTabard Sylvie,
Linglart Agnès,
Kamenický Peter
Publication year - 2020
Publication title -
journal of bone and mineral research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.882
H-Index - 241
eISSN - 1523-4681
pISSN - 0884-0431
DOI - 10.1002/jbmr.3992
Subject(s) - hypophosphatemia , medicine , hyperparathyroidism , parathyroid hormone , interquartile range , primary hyperparathyroidism , endocrinology , gastroenterology , vitamin d deficiency , vitamin d and neurology , calcium
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.