Van Buchem's Disease

Nassar, K.; Rachidi, Wafae; Janani, S.; Mkinsi, Ouafa

doi:10.1016/j.jbspin.2015.10.013

Cited by 7 publications

(6 citation statements)

References 9 publications

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“…Increases in myeloid cells, and decreases in lymphoid cells, are indicative of an inflammatory aging hematopoietic development, and may lead to weakened immune responses. Although mice and patients with mutations in the Sost gene exhibit similar bone marrow cavity occlusion, as observed in Sost −/− mice, it is unclear from the literature whether hematopoiesis has been monitored in these patients [43][44][45]. Our findings in Sost −/− mice indicate that patients receiving anti-sclerostin antibodies may have altered developmental hematopoiesis in the bone marrow and spleen.…”

Section: Sclerostinmentioning

confidence: 54%

Wnt Antagonists in Hematopoietic and Immune Cell Fate: Implications for Osteoporosis Therapies

Chicana

Donham

Millan

et al. 2019

Curr Osteoporos Rep

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Purpose of Review-We reviewed the current literature on the roles of the Wnt antagonists sclerostin (Sost) and sclerostin-containing domain protein 1 (Sostdc1) on bone homeostasis, the relationship of the hypoxia-inducible factor (Hif) and von Hippel-Lindau (Vhl) pathways on Sost expression, and how changes in bone induced by depletion of Sost, Sostdc1, and Vhl affect hematopoietic cells. Recent Findings-B cell development is adversely affected in Sost-knockout mice and is more severely affected in Vhl-knockout mice. Inflammation in the Sost −/− bone microenvironment could alter hematopoietic stem cell behavior. Sostdc1 −/− mice display defects in natural killer cell development and cytotoxicity. Summary-Depletion of Sost and Sostdc1 have effects on immune cell function that warrant investigation in patients receiving Wnt antagonist-depleting therapies for treatment of bone diseases. Additional clinical applications for manipulation of Wnt antagonists include cancer immunotherapies, stem cell transplantation, and directed differentiation to immune lineages.

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Section: Sclerostinmentioning

confidence: 54%

Wnt Antagonists in Hematopoietic and Immune Cell Fate: Implications for Osteoporosis Therapies

Chicana

Donham

Millan

et al. 2019

Curr Osteoporos Rep

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“…Another disease, shortly after identified, associated with a mutation of the SOST gene is van Buchem’s disease, an autosomal recessive inherited condition, which presents phenotypically similar to and generally milder than sclerosteosis, without syndactyly, with hyperostosis of the skull, mandible, clavicles, ribs, diaphyses of the long bones and tubular bones of the hands and feet, and associated cranial nerve entrapment, with secondary paralysis of varying degrees. 10 …”

Section: Sclerostin Modulation: Historical Insights and Pathophysiolo...mentioning

confidence: 99%

“…9 Another disease, shortly after identified, associated with a mutation of the SOST gene is van Buchem's disease, an autosomal recessive inherited condition, which presents phenotypically similar to and generally milder than sclerosteosis, without syndactyly, with hyperostosis of the skull, mandible, clavicles, ribs, diaphyses of the long bones and tubular bones of the hands and feet, and associated cranial nerve entrapment, with secondary paralysis of varying degrees. 10 A third pathology linked to SOST gene deficiency is craniodiaphyseal dysplasia, an autosomal dominant and very rare sclerotic bone disease with variable phenotypic expression characterized by massive, generalized hyperostosis and osteosclerosis, particularly of the skull and facial bones, which can lead to severe deformities. 11 Since SOST gene mutations are characterized almost exclusively by skeletal phenotypes, it was initially hypothesized that sclerostin was expressed only in bone.…”

Section: Introductionmentioning

confidence: 99%

Anti-sclerostin antibodies: a new frontier in fragility fractures treatment

Iolascon,

Liguori,

Paoletta

et al. 2023

Therapeutic Advances in Musculoskeletal

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Bone fragility is the determinant of the increased risk of minimal trauma fracture and must be treated with a multimodal approach that includes pharmacological therapy, physical exercise, and adequate nutrition. Pharmacological therapy, to date based on the administration of antiresorptive drugs, such as bisphosphonates and denosumab, or osteoanabolic drugs, such as teriparatide and abaloparatide, has shown to be effective in reducing the risk of fracture in osteoporotic patients. In the context of the cellular and molecular mechanisms that regulate bone metabolism, the discovery of the Wnt signaling pathway and its role in bone tissue homeostasis has allowed the identification of sclerostin as an inhibitor of osteoblastic activity and simultaneously as a stimulator of osteoclastic activity. Therefore, the use of a monoclonal antibody, romosozumab, against this protein has been tested as a potential drug with a dual action, stimulating bone neo-apposition and inhibiting bone resorption. The efficacy of romosozumab has been demonstrated in numerous clinical trials against both placebo and other drugs commonly used in the treatment of patients affected by osteoporosis. The advantages of this drug lie above all in its rapid action which makes it particularly suitable in clinical situations where it is necessary to improve bone strength very quickly due to the imminent risk of fragility fracture. Clinical studies and guidelines suggest romosozumab as an initial drug in an ideal sequential approach from osteoanabolic to antiresorptive drugs. Some aspects of cardiovascular safety remain to be fully investigated, therefore its use in osteoporotic patients at high cardiovascular risk should be avoided until further data become available.

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“…This autosomal recessive disorder is caused by a duplication or deletion of regions within the SOST gene that encodes sclerostin, a negative regulator of bone formation synthesized by osteocytes [ 56 ]. This condition is characterized by endosteal hyperostosis of the mandible, skull, ribs, clavicles, and diaphysis of long bones [ 57 ]. Van Buchem’s disease has therefore been classified as a craniotubular hyperostosis [ 58 ].…”

Section: Sclerosing Disordersmentioning

confidence: 99%

Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management

Charoenngam

Nasr

Shirvani

et al. 2022

Genes

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Hereditary metabolic bone diseases are characterized by genetic abnormalities in skeletal homeostasis and encompass one of the most diverse groups among rare diseases. In this review, we examine 25 selected hereditary metabolic bone diseases and recognized genetic variations of 78 genes that represent each of the three groups, including sclerosing bone disorders, disorders of defective bone mineralization and disorder of bone matrix and cartilage formation. We also review pathophysiology, manifestation and treatment for each disease. Advances in molecular genetics and basic sciences has led to accurate genetic diagnosis and novel effective therapeutic strategies for some diseases. For other diseases, the genetic basis and pathophysiology remain unclear. Further researches are therefore crucial to innovate ways to overcome diagnostic challenges and develop effective treatment options for these orphan diseases.

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Van Buchem's Disease

Cited by 7 publications

References 9 publications

Wnt Antagonists in Hematopoietic and Immune Cell Fate: Implications for Osteoporosis Therapies

Wnt Antagonists in Hematopoietic and Immune Cell Fate: Implications for Osteoporosis Therapies

Anti-sclerostin antibodies: a new frontier in fragility fractures treatment

Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management

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