Evidence map›Paper›PMID 42661684›Full record

ArticleFrontiers in endocrinology2026

Osteopetrorickets and calcium homeostasis in children with osteopetrosis: an endocrinological single-center study.

Ebru Gök, Emre Sarıkaya, Leyla Kara, Uğur Berber, Ülkü Gül Şiraz, Alper Özcan, Ebru Yılmaz, Ekrem Ünal, Musa Karakükcü, Nihal Hatipoğlu

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Article in Frontiers in endocrinology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Ebru GökDivision of Pediatric Endocrinology, Department of Pediatrics, Erciyes University, School of Health Sciences, Kayseri, Türkiye.
Emre SarıkayaDivision of Pediatric Endocrinology, Department of Pediatrics, Erciyes University, School of Health Sciences, Kayseri, Türkiye.
Leyla KaraDivision of Pediatric Endocrinology, Department of Pediatrics, Erciyes University, School of Health Sciences, Kayseri, Türkiye.
Uğur BerberDivision of Pediatric Endocrinology, Department of Pediatrics, Erciyes University, School of Health Sciences, Kayseri, Türkiye.
Ülkü Gül ŞirazDivision of Pediatric Endocrinology, Department of Pediatrics, Erciyes University, School of Health Sciences, Kayseri, Türkiye.
Alper ÖzcanDivision of Pediatric Hematology and Oncology, Department of Pediatrics, Erciyes University, School of Health Sciences, Kayseri, Türkiye.
Ebru YılmazDivision of Pediatric Hematology and Oncology, Department of Pediatrics, Erciyes University, School of Health Sciences, Kayseri, Türkiye.
Ekrem ÜnalDivision of Pediatric Hematology and Oncology, Department of Pediatrics, Erciyes University, School of Health Sciences, Kayseri, Türkiye.
Musa KarakükcüDivision of Pediatric Hematology and Oncology, Department of Pediatrics, Erciyes University, School of Health Sciences, Kayseri, Türkiye.
Nihal HatipoğluDivision of Pediatric Endocrinology, Department of Pediatrics, Erciyes University, School of Health Sciences, Kayseri, Türkiye.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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%). 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.

Indexed as

CalciumHomeostasisOsteopetrosisChildChild, PreschoolChloride ChannelsFemaleHematopoietic Stem Cell TransplantationHumansInfantInfant, NewbornMaleMutationRetrospective StudiesVacuolar Proton-Translocating ATPasesCalciumChloride ChannelsCLCN7 protein, humanTCIRG1 protein, humanVacuolar Proton-Translocating ATPasesbone metabolismcalcium homeostasishematopoietic stem cell transplantationhypercalcemiaosteopetroricketsosteopetrosispediatric endocrinologyTCIRG1

Identifiers

PMID42661684
PMCPMC13518210

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.