Osteopetrorickets and calcium homeostasis in children with osteopetrosis: an endocrinological single-center study
Frontiers in Endocrinology, cilt.17, ss.1-9, 2026 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 17
- Basım Tarihi: 2026
- Doi Numarası: 10.3389/fendo.2026.1854949
- Dergi Adı: Frontiers in Endocrinology
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, EMBASE, MEDLINE, Directory of Open Access Journals
- Sayfa Sayıları: ss.1-9
- Anahtar Kelimeler: bone metabolism, calcium homeostasis, hematopoietic stem cell transplantation, hypercalcemia, osteopetrorickets, osteopetrosis, pediatric endocrinology, TCIRG1
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Erciyes Üniversitesi Adresli: Evet
Özet
Background – Osteopetrosis is a rare inherited disorder caused by impaired osteoclast number or function, leading to increased bone density, fractures, neurologic complications, and disturbances in calcium-phosphate homeostasis. This study aimed to describe the endocrine manifestations of childhood osteopetrosis, particularly osteopetrorickets, and to evaluate treatment responses and post-transplant calcium disorders. Methods – We retrospectively reviewed 17 children diagnosed with osteopetrosis at a single tertiary center between 2015 and 2025. Clinical, biochemical, radiologic, genetic, and treatment data were analyzed. Results – The median age at diagnosis was 14 months (range, 15 days–130 months), and short stature was observed in 13 of 17 patients (76.4%). Ophthalmologic abnormalities were present in 10 patients (58.8%), hearing loss in 7 patients (41.1%), and hepatosplenomegaly in 7 patients (41.1%). TCIRG1 was the most frequent mutation, followed by CLCN7, TNFSF11, TNFRSF11A, and CA2. Osteopetrorickets was identified in 13 of 17 patients (76.4%); among these patients, hypocalcemia occurred in 11 of 13, hypophosphatemia in 8 of 13, and vitamin D deficiency in 4 of 13. Generalized osteosclerosis was observed in all patients, whereas classic osteopetrosis-associated radiographic findings, including bone-in-bone appearance, sandwich vertebrae, and Erlenmeyer flask deformity, were identified only in a subset of patients. Hematopoietic stem cell transplantation was performed in 11 of 13 patients with osteopetrorickets. Four of these 11 patients died during the early post-transplant period. Among patients with osteopetrorickets who underwent hematopoietic stem cell transplantation (HSCT) (n=11), seven surviving patients achieved complete resolution of rickets (7/11, 63.6%), allowing discontinuation of replacement therapy within 15 days to 8 months. Post-transplant hypercalcemia developed in 4 of 13 transplant recipients (30.8%). Conclusions – Osteopetrorickets is a frequent and clinically significant complication of pediatric osteopetrosis. Early recognition of mineral disturbances, genotype-based treatment planning, and close surveillance for rebound hypercalcemia after transplantation are essential to improve outcomes.