ArticleAnnals of pediatric endocrinology & metabolism2022
Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta.
Article in Annals of pediatric endocrinology & metabolism, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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Who cites it
4 citing papers in PubMed, 8 citations in OpenAlex.
- Fracture risk assessment by dual-energy absorptiometry in osteogenesis imperfecta: A systematic review of measurement sites and its predictive value.Bone reports · 2026Review
- Genotype-phenotype correlations in 294 pediatric patients with osteogenesis imperfecta.JBMR plus · 2024Article
- Case Report and Literature Review: Bisphosphonate, Sirolimus, and Atenolol Treatment in a 4-Year-Old Child Diagnosed with Gorham-Stout Disease.Pharmaceuticals (Basel, Switzerland) · 2023Article
- Diagnosis and Management of Osteoporosis in Children and Adolescents.Ewha medical journal · 2023Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
purposeOsteogenesis imperfecta (OI) is a rare bone fragility disorder caused by defects in type 1 collagen biosynthesis. This study investigated the genotype-phenotype correlations and the efficacy of pamidronate therapy in patients with OI in a single academic center.
methodsThis study included 24 patients with OI. A clinical scoring system was used to evaluate disorder severity. COL1A1 and COL1A2 genes were analyzed in 13 patients using Sanger sequencing. Genotype-phenotype correlations and the efficacy of pamidronate therapy were analyzed through a retrospective medical chart review.
resultsOf the 24 patients, 18 (75%) were classified as type I (12 with type Ia and 6 with type Ib), 2 as type III (8.4%), and 4 as type IV (16.7%). Type Ia patients showed relatively higher lumbar bone mineral density (BMD) standard deviation scores (SDS) and lower clinical scores than those with other types. Seven patients with qualitative mutations had lower lumbar BMD-SDS (P=0.015) and higher clinical scores (P=0.008) than 6 patients with quantitative mutations. The annual fracture frequency and lumbar BMD-SDS improved in patients with qualitative mutations after pamidronate treatment.
conclusionThis study demonstrated that OI patients with qualitative mutations in COL1A1/2 had a more severe phenotype than those with quantitative mutations. Patients with qualitative mutations showed a significant reduction in fracture frequency and an increase in lumbar BMD-SDS after pamidronate treatment. Clinical score and genotype might be helpful for predicting phenotype and response to pamidronate therapy in OI patients.
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