Hyperparathyroidism and parathyroidectomy in X-linked hypophosphatemia patients

Sean DeLacey, Ziyue Liu, Andrea Broyles, Sarah A. El-Azab, Cristian F. Guandique, Benjamin C. James, Erik Imel

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)386-392
Number of pages7
JournalBone
Volume127
DOIs
StatePublished - Oct 1 2019

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Familial Hypophosphatemic Rickets
Parathyroidectomy
Hyperparathyroidism
Nephrocalcinosis
Secondary Hyperparathyroidism
Hypercalcemia
Vitamin D
Phosphates
Hypophosphatemia
Hypoparathyroidism
Osteomalacia
Rickets
Chronic Renal Insufficiency
Salts

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Physiology
  • Histology

Cite this

DeLacey, S., Liu, Z., Broyles, A., El-Azab, S. A., Guandique, C. F., James, B. C., & Imel, E. (2019). Hyperparathyroidism and parathyroidectomy in X-linked hypophosphatemia patients. Bone, 127, 386-392. https://doi.org/10.1016/j.bone.2019.06.025

Hyperparathyroidism and parathyroidectomy in X-linked hypophosphatemia patients. / DeLacey, Sean; Liu, Ziyue; Broyles, Andrea; El-Azab, Sarah A.; Guandique, Cristian F.; James, Benjamin C.; Imel, Erik.

In: Bone, Vol. 127, 01.10.2019, p. 386-392.

Research output: Contribution to journalArticle

DeLacey, S, Liu, Z, Broyles, A, El-Azab, SA, Guandique, CF, James, BC & Imel, E 2019, 'Hyperparathyroidism and parathyroidectomy in X-linked hypophosphatemia patients', Bone, vol. 127, pp. 386-392. https://doi.org/10.1016/j.bone.2019.06.025
DeLacey S, Liu Z, Broyles A, El-Azab SA, Guandique CF, James BC et al. Hyperparathyroidism and parathyroidectomy in X-linked hypophosphatemia patients. Bone. 2019 Oct 1;127:386-392. https://doi.org/10.1016/j.bone.2019.06.025
DeLacey, Sean ; Liu, Ziyue ; Broyles, Andrea ; El-Azab, Sarah A. ; Guandique, Cristian F. ; James, Benjamin C. ; Imel, Erik. / Hyperparathyroidism and parathyroidectomy in X-linked hypophosphatemia patients. In: Bone. 2019 ; Vol. 127. pp. 386-392.
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abstract = "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.",
author = "Sean DeLacey and Ziyue Liu and Andrea Broyles and El-Azab, {Sarah A.} and Guandique, {Cristian F.} and James, {Benjamin C.} and Erik Imel",
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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

PY - 2019/10/1

Y1 - 2019/10/1

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.

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