Skip to main content

Advertisement

SpringerLink
Log in

Cinacalcet as adjunctive therapy in pseudohypoparathyroidism type 1b

  • Original Article
  • Published:
Pediatric Nephrology Aims and scope Submit manuscript

Abstract

Background

In patients with pseudohypoparathyroidism type 1b (PHP1b) due to a tissue-specific imprinting defect in the G-protein α-subunit, skeletal disorders can arise from the bones being sensitive to parathyroid hormone (PTH) while the kidneys remain resistant to this hormone.

Case-diagnosis/treatment

We report a 4.8-year-old girl with PHP1b who presented with an abnormal gait, severe skeletal changes and elevated levels of serum PTH (2844 pg/ml), phosphate (7.2 mg/dl) and bone turnover markers. Traditional treatment with calcium and calcitriol failed to suppress PTH secretion, which was still elevated at 2877 pg/ml after 14 months of therapy, nor did it correct the other clinical, biochemical and radiographic abnormalities. The addition of cinacalcet to the treatment regimen over the subsequent 32 months resulted in normalization of serum PTH (58 ng/ml), phosphate (4.9 mg/dl) and bone turnover markers, and resolution of the radiographic changes, with no adverse effects noted.

Conclusions

Due to its ease of administration, we recommend the addition of cinacalcet into the armamentarium of medications available to treat children with PHP1b.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

References

  1. Izzi B, Van Geet C, Freson K (2012) Recent advances in GNAS epigenetic research of pseudohypoparathyroidism. Curr Mol Med 12:566–573

    Article  CAS  PubMed  Google Scholar 

  2. Farfel Z (1999) Pseudohypohyperparathyroidism–pseudohypoparathyroidism type Ib. J Bone Miner Res 14:1016

    Article  CAS  PubMed  Google Scholar 

  3. Chan JC, Young RB, Hartenberg MA, Chinchilli VM (1985) Calcium and phosphate metabolism in children with idiopathic hypoparathyroidism or pseudohypoparathyroidism: effects of 1,25-dihydroxyvitamin D. J Pediatr 106:421–426

    Article  CAS  PubMed  Google Scholar 

  4. Neary NM, El-Maouche D, Hopkins R, Libutti SK, Moses AM, Weinstein LS (2012) Developmental and treatment of tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1B. J Clin Endocrinol Metab 97:3025–3030

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Koch M, Kohnle M (2008) Successful off-label use of cinacalcet HCI after standard therapy failure in a young man with Pseudohypoparathyroidism type 1b and vitamin D intoxication sequelae. Clin Nephrol 70:439–444

    Article  CAS  PubMed  Google Scholar 

  6. Srivastava T, Alon US (2013) Cinacalcet as adjunctive therapy for hereditary 1,25-dihydroxyvitamin D-resistant rickets. J Bone Miner Res 28:992–996

    Article  CAS  PubMed  Google Scholar 

  7. Alon US, Levy-Olomucki R, Moore WV, Stubbs J, Liu S, Quarles LD (2008) Calcimimetics as an adjuvant treatment for familial hypophosphatemic rickets. Clin J Am Soc Nephrol 3:658–664

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Muscheites J, Wigger M, Drueckler E, Fischer DC, Kundt G, Haffner D (2008) Cinacalcet for secondary hyperparathyroidism in children with end-stage renal disease. Pediatr Nephrol 23:1823–1829

    Article  PubMed  Google Scholar 

  9. Silverstein DM, Kher KK, Moudgil A, Khurana M, Wilcox J, Moylan K (2008) Cinacalcet is efficacious in pediatric dialysis patients. Pediatr Nephrol 23:1817–1822

    Article  PubMed  Google Scholar 

  10. Alon US, Van De Voorde RG (2010) Beneficial effect of cinacalcet in a child with familiar hypocalciuric hypercalcemia. Pediatr Nephrol 25:1747–1750

    Article  PubMed  Google Scholar 

  11. Cohen RD (1969) Pseudohypoparathyroidism with raised alkaline phosphatase. Arch Dis Child 44:96–101

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. Dabbagh S, Chesney RW, Langer LO, DeLuca HF, Gilbert EF, DeWeerd JH Jr (1984) Renal-nonresponsive, bone-responsive pseudohypoparathyroidism. Am J Dis Child 138:1030–1033

    Article  CAS  PubMed  Google Scholar 

  13. Alon US (2007) Diseases and clinical applications of the calcium sensing receptor. Pediatr Endocrinol Rev 5:482–488

    PubMed  Google Scholar 

  14. Peacock M, Bilezikian JP, Klassen PS, Gou MD, Turner SA, Shoback D (2005) Cinacalcet hydrochloride maintains long-term normocalcemia in patients with primary hyperparathyroidism. J Clin Endocrinol Metab 90:135–141

    Article  CAS  PubMed  Google Scholar 

  15. Gal-Moscovici A, Sprague SM (2006) The role of calcimimetics in chronic kidney disease. Kidney Int Suppl 104:S68–S72

    Article  CAS  Google Scholar 

Download references

Acknowledgments

Informed consent was given by the family of our patient to share our experience with cinacalcet in PHP1b. We appreciate their support and confidence in us over these years. All authors have contributed to either the patient’s clinical care, data analysis and/or writing up of the manuscript. The study was supported by the Sam and Helen Kaplan Research Fund in Pediatric Nephrology and Eric McClure Research Fund in Pediatric Bone and Mineral Disorders.

Author information

Authors and Affiliations

  1. Bone and Mineral Disorder Clinic, Section of Nephrology, The Children’s Mercy Hospitals and Clinics, University of Missouri at Kansas City, 2401 Gillham Road, Kansas City, MO, 64108, USA

    Tarak Srivastava, Jeffrey Krudys, Judith Sebestyen-VanSickle & Uri S. Alon

  2. Renal Research Laboratory, Research and Development, Kansas City VA Medical Center, Kansas City, MO, 64128, USA

    Tarak Srivastava

  3. Department of Radiology, The Children’s Mercy Hospitals and Clinics, University of Missouri at Kansas City, Kansas City, MO, 64108, USA

    Neil J. Mardis

Authors
  1. Tarak Srivastava
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Jeffrey Krudys
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Neil J. Mardis
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Judith Sebestyen-VanSickle
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Uri S. Alon
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Uri S. Alon.

Ethics declarations

Conflicts of interest

Tarak Srivastava has received research funding from Alexion, Retrophin and Mallinckrodt Pharmaceuticals. All other authors declare no conficts of interest.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Srivastava, T., Krudys, J., Mardis, N.J. et al. Cinacalcet as adjunctive therapy in pseudohypoparathyroidism type 1b. Pediatr Nephrol 31, 795–800 (2016). https://doi.org/10.1007/s00467-015-3271-7

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00467-015-3271-7

Keywords

Search

Navigation