TY - JOUR
T1 - Hyperparathyroidism and parathyroidectomy in X-linked hypophosphatemia patients
AU - DeLacey, Sean
AU - Liu, Ziyue
AU - Broyles, Andrea
AU - El-Azab, Sarah A.
AU - Guandique, Cristian F.
AU - James, Benjamin C.
AU - Imel, Erik A.
N1 - Funding Information:
This work was supported in part by funding from the National Institutes of Health , National Institute of Arthritis, Musculoskeletal and Skin Diseases (United States of America) grant: 1P30AR072581 .
Publisher Copyright:
© 2019 Elsevier Inc.
PY - 2019/10
Y1 - 2019/10
N2 - Background: X-linked hypophosphatemia (XLH) causes rickets, osteomalacia, skeletal deformities and growth impairment, due to elevated fibroblast growth factor 23 and hypophosphatemia. Conventional therapy requires high doses of phosphate salts combined with active vitamin D analogues. Risks of this regimen include nephrocalcinosis and secondary hyperparathyroidism or progression to tertiary (hypercalcemic) hyperparathyroidism. Methods: The primary goals were to estimate the prevalence of hyperparathyroidism and to characterize parathyroidectomy outcomes regarding hypercalcemia among XLH patients. XLH patients attending our center from 1/2000 to 12/2017 were included in a retrospective chart review. Prevalence of nephrocalcinosis and eGFR < 60 ml/min/1.73m2 was also assessed. Results: Of 104 patients with XLH, 84 had concurrent measurements of calcium and PTH (40 adults and 44 children). Of these, 70/84 (83.3%), had secondary or tertiary hyperparathyroidism at any time point. Secondary hyperparathyroidism was persistent in 62.2% of those with data at multiple timepoints. Tertiary hyperparathyroidism had an overall prevalence of 14/84 (16.7%) patients. Parathyroidectomy was performed in 8/84 (9.5%) of the total population. After parathyroidectomy, persistent or recurrent tertiary hyperparathyroidism was detected in 6/8 (75%) patients at a median of 6 years (from 0 to 29 years). One patient had chronic post-surgical hypoparathyroidism and one patient remained normocalcemic 4 years after surgery. Nephrocalcinosis was more prevalent in patients with tertiary hyperparathyroidism than those without (60.0% vs 18.6%). Chronic kidney disease (eGFR < 60 ml/min/1.73m2) was also more prevalent in patients with tertiary hyperparathyroidism than those without (35.7% vs 1.5%). Conclusion: The majority of patients with XLH develop secondary hyperparathyroidism during treatment with phosphate and active vitamin D. A significant proportion develops tertiary hyperparathyroidism and most have recurrence or persistence of hypercalcemia after surgery.
AB - Background: X-linked hypophosphatemia (XLH) causes rickets, osteomalacia, skeletal deformities and growth impairment, due to elevated fibroblast growth factor 23 and hypophosphatemia. Conventional therapy requires high doses of phosphate salts combined with active vitamin D analogues. Risks of this regimen include nephrocalcinosis and secondary hyperparathyroidism or progression to tertiary (hypercalcemic) hyperparathyroidism. Methods: The primary goals were to estimate the prevalence of hyperparathyroidism and to characterize parathyroidectomy outcomes regarding hypercalcemia among XLH patients. XLH patients attending our center from 1/2000 to 12/2017 were included in a retrospective chart review. Prevalence of nephrocalcinosis and eGFR < 60 ml/min/1.73m2 was also assessed. Results: Of 104 patients with XLH, 84 had concurrent measurements of calcium and PTH (40 adults and 44 children). Of these, 70/84 (83.3%), had secondary or tertiary hyperparathyroidism at any time point. Secondary hyperparathyroidism was persistent in 62.2% of those with data at multiple timepoints. Tertiary hyperparathyroidism had an overall prevalence of 14/84 (16.7%) patients. Parathyroidectomy was performed in 8/84 (9.5%) of the total population. After parathyroidectomy, persistent or recurrent tertiary hyperparathyroidism was detected in 6/8 (75%) patients at a median of 6 years (from 0 to 29 years). One patient had chronic post-surgical hypoparathyroidism and one patient remained normocalcemic 4 years after surgery. Nephrocalcinosis was more prevalent in patients with tertiary hyperparathyroidism than those without (60.0% vs 18.6%). Chronic kidney disease (eGFR < 60 ml/min/1.73m2) was also more prevalent in patients with tertiary hyperparathyroidism than those without (35.7% vs 1.5%). Conclusion: The majority of patients with XLH develop secondary hyperparathyroidism during treatment with phosphate and active vitamin D. A significant proportion develops tertiary hyperparathyroidism and most have recurrence or persistence of hypercalcemia after surgery.
UR - http://www.scopus.com/inward/record.url?scp=85068850482&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85068850482&partnerID=8YFLogxK
U2 - 10.1016/j.bone.2019.06.025
DO - 10.1016/j.bone.2019.06.025
M3 - Article
C2 - 31276850
AN - SCOPUS:85068850482
VL - 127
SP - 386
EP - 392
JO - Bone
JF - Bone
SN - 8756-3282
ER -
