ESPE Abstracts (2014) 82 P-D-3-3-690

Prospective Evaluation of Bone Mineralization, PTH Regulation, and Metabolic Profile in Adult Patients with Hereditary Hypophosphatemic Rickets

Emese Borosa, Anya Rothenbuhlerb, Hazar Haidarc, Dominique Priec, Pol Harvengtd, Lavinia Vijae, Sylvie Brailly-Tabardc, Philippe Chansonf, Agnès Linglartb & Peter Kamenickyf


aService D’endocrinologie Pédiatrique, Hôpital Universitaire des Enfants Reine Fabiola Avenue J J Crocq 15, Bruxelles, Belgium; bCentre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphore, Service d’Endocrinologie et Diabétologie de l’Enfant, Université Paris Sud, Hôpital Bicêtre, APHP, 78 Rue du Général Leclerc, Paris, France; cService de Pharmacogénétique, Biochimie Moléculaire et Hormonologie, Service GMPH, Hôpital Bicêtre, APHP, Université Paris Sud, 78 Rue du Général Leclerc, 94270 Paris, France; dReprésentant Association Pour les Personnes Atteintes de Rachitisme Vitamino-résistant Hypophosphatemique, Paris, France; eUnité Inserm 693, Faculté de Médecine Paris-Sud, 63 Rue Gabriel Péri, 94276 Le Kremlin-Bicêtre, Paris, France; fCentre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphore, Service d’Endocrinologie et des Maladies de la Reproduction, Hôpital Bicêtre, APHP, 78 Rue du Général Leclerc 94270, Paris, France


Background: Hereditary hypophosphatemic rickets (HHR) is a rare genetic disease characterized by renal phosphate wasting, caused by elevated circulating FGF23. Despite the current available treatment complications include short stature, hyperparathyroidism, pseudofractures, bone pain, bone demineralization and osteoporosis, nephrocalcinosis and enthesopathies. Elevated circulating FGF23 was recently involved in glucose metabolism and cardiovascular function.

Objective and hypotheses: Our objective was to prospectively evaluate complications of the disease and patients’ metabolism.

Method: Twenty-eight patients with HHR were prospectively evaluated (six males and 22 females).

Results: Mean age (min-max) of adult HHR patients was 39 years (19.4–69.3). The mean height for males was 160.6 cm and for female 147.0 cm. 9 (32.1%), 9 (32.1%), and 10 (35.8%) patients were obese, over weighted and had a normal BMI respectively. Two patients had glucose intolerance. One patient had a parathyroid adenoma. Two patients had renal lithiasis, none had nephrocalcinosis. The spinal T score correlated with FGF23 values. Femoral neck T score was higher in patients who received vitamin D analogues during childhood.

Table 1.
All patientsTreatedNon treatedP*
Blood pressure systolic/diastolic (mmhg)116/72 108/65 120/740.1044
BMI (kg/m2)27.5 27.8 27.3 0.7997
HOMA1.32.71.00.0057
Urinary calcium (mg/kg per day) (n<4)2.51.82.80.1365
PTH (pg/ml) (n 15–60)36.0 46.5 52.5 0.7082
L1–L4 T score2.4 2.7 2.3 0.4980
Femoral neck T score−0.1 0.7 −0.4 0.0174

Conclusion: Overweight and obesity is frequent in HHR patients. Vitamin D analogues treatment improves cortical bone mineral density. Complications like nephrocalcinosis and hyperparathyroidism are rare.