Hyperparathyroidism in Patients With X-Linked Hypophosphatemia

被引：42

作者：

Lecoq, Anne-Lise ^{[1
]}

Chaumet-Riffaud, Philippe ^{[2
]}

Blanchard, Anne ^{[3
]}

Dupeux, Margot ^{[4
]}

Rothenbuhler, Anya ^{[5
]}

Lambert, Benoit ^{[6
]}

Durand, Emmanuel ^{[2
]}

Boros, Erika ^{[5
]}

Briot, Karine ^{[8
]}

Silve, Caroline ^{[9
]}

Francou, Bruno ^{[7
]}

Piketty, Marie ^{[10
]}

Chanson, Philippe ^{[1
,11
]}

Brailly-Tabard, Sylvie ^{[7
]}

Linglart, Agnes ^{[11
]}

Kamenicky, Peter ^{[1
,11
]}

机构：

[1] Hop Bicetre, AP HP, Serv Endocrinol & Malad Reprod,Filiere OSCAR, Ctr Reference Malad Rares Metab Calcium & Phospha, Le Kremlin Bicetre, France

[2] Hop Bicetre, AP HP, Serv Biophys & Med Nucl, Le Kremlin Bicetre, France

[3] Hop Europeen Georges Pompidou, AP HP, Ctr Invest Clin 1418, Le Kremlin Bicetre, France

[4] Hop Bicetre, AP HP, Serv Anat & Cytol Pathol, Le Kremlin Bicetre, France

[5] Hop Bicetre, AP HP, Endocrinol & Diabetol Enfant,Filiere OSCAR, Ctr Reference Malad Rares Metabolisme Calcium Pho, Le Kremlin Bicetre, France

[6] Hop Bicetre, AP HP, Serv Chirurg Viscerale & Digest, Le Kremlin Bicetre, France

[7] Hop Bicetre, AP HP, Lab Genet Mol Pharmacogenet & Hormonol, Le Kremlin Bicetre, France

[8] Hop Cochin, AP HP, Serv Rhumatol, Ctr Reference Malad Rares Metab Calcium & Phospha, Le Kremlin Bicetre, France

[9] Hop Cochin, AP HP, Serv Genet & Biol Mol,Filiere OSCAR, Ctr Reference Malad Rares Metab Calcium & Phospha, Le Kremlin Bicetre, France

[10] Hop Necker Enfants Malad, AP HP, Serv Explorat Fonct Physiol & Neurophys, Paris, France

[11] Univ Paris Saclay, Inserm, Physiol & Physiopathol Endocriniennes, Paris, France

来源：

JOURNAL OF BONE AND MINERAL RESEARCH | 2020年 / 35卷 / 07期

关键词：

FGF23; HYPERPARATHYROIDISM; PHEX; PARATHYROID HORMONE; X-LINKED HYPOPHOSPHATEMIA; PARATHYROID-HORMONE SECRETION; TERTIARY HYPERPARATHYROIDISM; CALCITRIOL; EXPRESSION; RICKETS; GLAND;

D O I：

10.1002/jbmr.3992

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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 < 0.0001). 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. (c) 2020 American Society for Bone and Mineral Research.

引用

页码：1263 / 1273

页数：11

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