Efficacy of denosumab therapy for osteoporosis-pseudoglioma syndrome with osteoporosis: a case report

Miyazawa, Shun; Nakamura, Yukio; Kosho, Tomoki; Kawame, Hiroshi; Narumi, Shunji; Hasegawa, Tomonobu; Suzuki, Takehiko; Kato, Hiroyuki

doi:10.1080/24725625.2018.1454573

Cited by 2 publications

(2 citation statements)

References 14 publications

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Section: Disorders Of Bone Matrix and Cartilage Formationmentioning

confidence: 99%

“…Little is known about the treatment strategies of skeletal involvement in OPPG. Bisphosphonates and denosumab have been shown to improve bone mineral density in case reports [179,180]. Teriparatide was also used in patients with OPPG who failed to respond to pamidronate [179,181] Osteogenesis imperfecta (OI), also known as 'brittle bone disease', is the most common hereditary metabolic bone disease that affects approximately 8 per 100,000 live births [182].…”

Section: Treatmentmentioning

confidence: 99%

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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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Section: Disorders Of Bone Matrix and Cartilage Formationmentioning

confidence: 99%

Section: Treatmentmentioning

confidence: 99%

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

Charoenngam

Nasr

Shirvani

et al. 2022

Genes

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Severe Osteoporosis With Pathogenic LRP5 Variant

Stringer,

Sims,

Sachithanandan

et al. 2024

JCEM Case Reports

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A 24-year-old female patient was diagnosed with osteoporosis after presenting with numerous fractures throughout her childhood and adolescence. Risk factors included chronic constipation, severe vitamin D deficiency, and long-term high-dose steroid use for severe eczema. Metabolic bone disorder clinical exome screening (limited panel of metabolic bone disorders and gastrointestinal disorders) was undertaken and revealed a class 4 likely pathogenic variant in the LRP5 gene known to cause osteoporosis. Optimal treatment for patients with this variant is not well defined. A literature review of the condition and potential treatment options is discussed.

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Efficacy of denosumab therapy for osteoporosis-pseudoglioma syndrome with osteoporosis: a case report

Cited by 2 publications

References 14 publications

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

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

Severe Osteoporosis With Pathogenic LRP5 Variant

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