Treatment response to long term antiresorptive therapy in osteogenesis imperfecta type VI: does genotype matter?
-
Nur Berna Celik
,
Nazli Gonc
Abstract
Objectives
Osteogenesis imperfecta type VI (OI VI) follows a progressive and severe course, yet unlike other forms of severe OI it has a later onset of fractures, and extra-skeletal findings are not part of the clinical picture. Another difference is that there is an increase in unmineralized osteoid tissue in OI VI, which hinders the effect of bisphosphonates-the current standard of treatment for OI. Therefore, the response to standard treatments in OI VI is not satisfactory. Herein, we report long-term follow-up of two cases with novel SERPINF1 mutations, who show great variation in their treatment response to bisphosphonates.
Case presentation
The first case was given pamidronate at the age of 15 months when he could sit independently, followed a fluctuating course under treatment, fracture rate did not decrease, however he was able to mobilize with walker at the age of 10 years. On the other hand, the second case developed severe deformities and became wheelchair-bound under pamidronate, thus the treatment was switched to denosumab. Unfortunately, there was no improvement under denosumab after 15 months too, and since bone pain increased, denosumab treatment was stopped. He was put on zoledronic acid instead.
Conclusion
SERPINF1 transcript amount may be an important factor to explain the variation in response to pamidronate therapy. In OI VI patients, the factors affecting the clinical course should be identified and new or combined treatment options should be established.
Research funding: No financial disclosure.
Author Contributions: Nur Berna Celik drafted the paper, reviewed literature. Nur Berna Celik, Nazli Gonc, Alev Ozon, Ayfer Alikasifoglu, Nurgun Kandemir engaged in the diagnosis, clinical, management of the case, reviewed the literature and revised the manuscript. Frank Rauch involved in the genetic diagnosis.
Competing interests: The authors have no conflicts of interest to declare.
Informed consent: Informed consent has been obtained from all authors.
Ethical approval: Study was conducted in accordance with the principles of the Declaration of Helsinki with informed consent obtained from the patients and their parents.
References
1. Glorieux, FH, Ward, LM, Rauch, F, Lalic, L, Roughley, PJ, Travers, R. Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect. J Bone Miner Res 2002;17:30–8. https://doi.org/10.1359/jbmr.2002.17.1.30.Search in Google Scholar PubMed
2. Homan, EP, Rauch, F, Grafe, I, Lietman, C, Doll, JA, Dawson, B, et al. Mutations in SERPINF1 cause osteogenesis imperfecta type VI. J Bone Miner Res 2011;26:2798–803. https://doi.org/10.1002/jbmr.487.Search in Google Scholar PubMed PubMed Central
3. Semler, O, Netzer, C, Hoyer-Kuhn, H, Becker, J, Eysel, P, Schoenau, E. First use of the RANKL antibody denosumab in osteogenesis imperfecta type VI. J Musculoskelet Neuronal Interact 2012;12:183–8.Search in Google Scholar
4. Hoyer-Kuhn, H, Netzer, C, Koerber, F, Schoenau, E, Semler, O. Two years’ experience with denosumab for children with osteogenesis imperfecta type VI. Orphanet J Rare Dis 2014;9:145. https://doi.org/10.1186/s13023-014-0145-1.Search in Google Scholar PubMed PubMed Central
5. Ward, L, Bardai, G, Moffatt, P, Al-Jallad, H, Trejo, P, Glorieux, FH, et al. Osteogenesis imperfecta type VI in individuals from Northern Canada. Calcif Tissue Int 2016;98:566–72. https://doi.org/10.1007/s00223-016-0110-1.Search in Google Scholar PubMed
6. Trejo, P, Palomo, T, Montpetit, K, Fassier, F, Sato, A, Glorieux, FH, et al. Long-term follow-up in osteogenesis imperfecta type VI. Osteoporos Int 2017;28:2975–83. https://doi.org/10.1007/s00198-017-4141-x.Search in Google Scholar PubMed
7. Becker, J, Semler, O, Gilissen, C, Li, Y, Bolz, HJ, Giunta, C, et al. Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet 2011;88:362–71. https://doi.org/10.1016/j.ajhg.2011.01.015.Search in Google Scholar PubMed PubMed Central
8. Tucker, T, Nelson, T, Sirrs, S, Roughley, P, Glorieux, FH, Moffatt, P, et al. A co-occurrence of osteogenesis imperfecta type VI and cystinosis. Am J Med Genet A 2012;158a:1422–6. https://doi.org/10.1002/ajmg.a.35319.Search in Google Scholar PubMed
9. Venturi, G, Gandini, A, Monti, E, Dalle Carbonare, L, Corradi, M, Vincenzi, M, et al. Lack of expression of SERPINF1, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type I collagen. J Bone Miner Res 2012;27:723–8. https://doi.org/10.1002/jbmr.1480.Search in Google Scholar PubMed
10. Al-Jallad, H, Palomo, T, Roughley, P, Glorieux, FH, McKee, MD, Moffatt, P, et al. The effect of SERPINF1 in-frame mutations in osteogenesis imperfecta type VI. Bone 2015;76:115–20. https://doi.org/10.1016/j.bone.2015.04.008.Search in Google Scholar PubMed
11. Miller, JN, Pearce, DA. Nonsense-mediated decay in genetic disease: friend or foe? Mutat Res Rev Mutat Res 2014;762:52–64. https://doi.org/10.1016/j.mrrev.2014.05.001.Search in Google Scholar PubMed PubMed Central
12. Holbrook, JA, Neu-Yilik, G, Hentze, MW, Kulozik, AE. Nonsense-mediated decay approaches the clinic. Nat Genet 2004;36:801–8. https://doi.org/10.1038/ng1403.Search in Google Scholar PubMed
© 2020 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Review Article
- Papillary thyroid carcinoma in children with Hashimoto’s thyroiditis – a review of the literature between 2000 and 2020
- Original Articles
- Tyrosine metabolism in health and disease: slow-release amino acids therapy improves tyrosine homeostasis in phenylketonuria
- Evolution of Hashimoto thyroiditis in children with type 1 diabetes mellitus (TIDM)
- Glycated hemoglobin variability and microvascular complications in patients with type 1 diabetes mellitus
- Delineation of the genetic and clinical spectrum, including candidate genes, of monogenic diabetes: a multicenter study in South Korea
- Can we use copeptin as a biomarker for masked hypertension or metabolic syndrome in obese children and adolescents?
- Relationship of acanthosis nigricans with metabolic syndrome in obese children
- Daily intake of macronutrients and energy in childhood and its association with cardiometabolic risk factors in Colombians
- The effect of treatment with recombinant human growth hormone (rhGH) on linear growth and adult height in children with idiopathic short stature (ISS): a systematic review and meta-analysis
- Growth in achondroplasia, from birth to adulthood, analysed by the JPA-2 model
- Short Communication
- Assessing disparities in barriers to attending pediatric diabetes camp
- Letter to the Editor
- Severity in pediatric type 1 diabetes mellitus debut during the COVID-19 pandemic
- Case Reports
- The use of glimepiride for the treatment of neonatal diabetes mellitus caused by a novel mutation of the ABCC8 gene
- Effect of recombinant human insulin-like growth factor 1 therapy in a child with 3-M syndrome-1 with CUL7 gene mutation
- A nonsense variant in FGFR1: a rare cause of combined pituitary hormone deficiency
- Treatment response to long term antiresorptive therapy in osteogenesis imperfecta type VI: does genotype matter?
Articles in the same Issue
- Frontmatter
- Review Article
- Papillary thyroid carcinoma in children with Hashimoto’s thyroiditis – a review of the literature between 2000 and 2020
- Original Articles
- Tyrosine metabolism in health and disease: slow-release amino acids therapy improves tyrosine homeostasis in phenylketonuria
- Evolution of Hashimoto thyroiditis in children with type 1 diabetes mellitus (TIDM)
- Glycated hemoglobin variability and microvascular complications in patients with type 1 diabetes mellitus
- Delineation of the genetic and clinical spectrum, including candidate genes, of monogenic diabetes: a multicenter study in South Korea
- Can we use copeptin as a biomarker for masked hypertension or metabolic syndrome in obese children and adolescents?
- Relationship of acanthosis nigricans with metabolic syndrome in obese children
- Daily intake of macronutrients and energy in childhood and its association with cardiometabolic risk factors in Colombians
- The effect of treatment with recombinant human growth hormone (rhGH) on linear growth and adult height in children with idiopathic short stature (ISS): a systematic review and meta-analysis
- Growth in achondroplasia, from birth to adulthood, analysed by the JPA-2 model
- Short Communication
- Assessing disparities in barriers to attending pediatric diabetes camp
- Letter to the Editor
- Severity in pediatric type 1 diabetes mellitus debut during the COVID-19 pandemic
- Case Reports
- The use of glimepiride for the treatment of neonatal diabetes mellitus caused by a novel mutation of the ABCC8 gene
- Effect of recombinant human insulin-like growth factor 1 therapy in a child with 3-M syndrome-1 with CUL7 gene mutation
- A nonsense variant in FGFR1: a rare cause of combined pituitary hormone deficiency
- Treatment response to long term antiresorptive therapy in osteogenesis imperfecta type VI: does genotype matter?
