Understanding rickets in osteopetrosis via a case: mechanisms and treatment implications
Nonspecific symptoms of osteopetrorickets should be considered for early diagnosis, as a timely intervention in the first months of life can be life-saving. The pathophysiology of rickets remains unclear, but low calcium-phosphorus product and resistance to 1.25-dihydroxyvitamin D appear to play key roles. High-dose calcitriol and cautious calcium supplementation may improve outcomes, though further research is needed to optimize treatment strategies.
Authors
- Rukiye Uyanık (ORCID: https://orcid.org/0000-0001-5461-4233)
- Esra Bilici (ORCID: https://orcid.org/0000-0002-9262-7200)
- Zehra Aycan (ORCID: https://orcid.org/0000-0003-4584-2976)
- Elif Özsu (ORCID: https://orcid.org/0000-0002-3459-5781)
- Zeynep Şıklar (ORCID: https://orcid.org/0000-0003-0921-2694)
- Merih Berberoğlu (ORCID: https://orcid.org/0000-0003-3102-0242)
- Serdar Ceylaner (ORCID: https://orcid.org/0000-0003-2786-1911)
Institutions
- Ankara University (TR)
- Zonguldak Bülent Ecevit University (TR)
- Intergen (Turkey) (TR)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Metabolism
- Published
- 2025-07-16
- DOI
- https://doi.org/10.1515/jpem-2025-0145
- Citations
- 1
- Primary Topic
- Bone Metabolism and Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.81