ArticleThe Journal of clinical endocrinology and metabolism2017
Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu-Cheney Syndrome.
Article in The Journal of clinical endocrinology and metabolism, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Hajdu-Cheney Syndrome: A Systematic Review of the Literature.International journal of environmental research and public health · 2020Pooled it
- Hajdu-Cheney Syndrome in a Two-Generation Family: Longitudinal Skeletal Progression and Differential Therapeutic Responses in a Mother and Her Son.International journal of molecular sciences · 2026Article
- Article
- A NOTCH2 pathogenic variant and HES1 regulate osteoclastogenesis in induced pluripotent stem cells.Bone · 2025Article
- Article
- Hajdu-Cheney Syndrome: A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report.Journal of clinical medicine · 2022Article
- Nursing Care Plan for Patients with Hajdu-Cheney Syndrome.International journal of environmental research and public health · 2022Article
- Hajdu-Cheney Syndrome: Report of a Case in Spain.Diagnostics (Basel, Switzerland) · 2022Article
- Hajdu Cheney syndrome; A novel NOTCH2 mutation in a Syrian child, and treatment with zolidronic acid: A case report and a literature review of treatments.Annals of medicine and surgery (2012) · 2021Article
- Oral Surgery Procedures in a Patient with Hajdu-Cheney Syndrome Treated with Denosumab-A Rare Case Report.International journal of environmental research and public health · 2021Article
- Cortical bone development, maintenance and porosity: genetic alterations in humans and mice influencing chondrocytes, osteoclasts, osteoblasts and osteocytes.Cellular and molecular life sciences : CMLS · 2021Review
- Hajdu Cheney Syndrome due to NOTCH2 defect - First case report from Pakistan and review of literature.Annals of medicine and surgery (2012) · 2021Article
- Mechanisms of Bone Fragility: From Osteogenesis Imperfecta to Secondary Osteoporosis.International journal of molecular sciences · 2021Review
- A mutation in NOTCH2 gene first associated with Hajdu-Cheney syndrome in a Greek family: diversity in phenotype and response to treatment.Endocrine · 2021Article
- Review
- Antisense oligonucleotides targetingThe Journal of biological chemistry · 2020Article
- The Hajdu Cheney mutation sensitizes mice to the osteolytic actions of tumor necrosis factor α.The Journal of biological chemistry · 2019Article
- Notch in skeletal physiology and disease.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 9 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Context: Hajdu-Cheney syndrome (HJCYS) is a rare, multisystem bone disease caused by heterozygous mutations in the NOTCH2 gene. Histomorphometric and bone ultrastructural analyses in children have not been reported and sparse evidence exists on response to bisphosphonate (BP) therapy. Objective: To investigate clinical and bone histomorphometric characteristics, bone matrix mineralization, and the response of bone geometry and density to BP therapy. Patients: Five children with HJCYS (three males) between 6.7 and 15.3 years of age. Interventions: Various BP regimens (pamidronate, zoledronic acid, and alendronate) were used for between 1 and 10 years. Main Outcome Measures: Pretreatment transiliac bone biopsy specimens and peripheral quantitative computed tomography results were available in four and three subjects, respectively. Bone histomorphometry and quantitative backscattered electron imaging were performed in two patients. The response to BP was monitored using dual-energy X-ray absorptiometry and peripheral quantitative computed tomography. Results: Three patients had previously unreported NOTCH2 mutations. Histomorphometry demonstrated increased bone resorption and osteoclast numbers, increased heterogeneity of mineralization, and immature, woven bone. Trabecular bone formation was normal or elevated. Radius cortical thickness and density and lumbar spine bone mineral density were reduced at baseline and increased in response to BP therapy, which was not sustained after therapy discontinuation. Conclusions: Increased bone resorption and low cortical thickness are consistent with the effect of activating NOTCH2 mutations, which stimulate osteoclastogenesis. The increase in lumbar spine bone density and radial cortical thickness and density by BP therapy provides evidence of beneficial treatment effects in children with HJCYS.
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