Evidence map›Paper›PMID 38625381›Full record

ArticleOsteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA2024

Clinical features, treatment, and follow-up of OPPG and high-bone-mass disorders: LRP5 is a key regulator of bone mass.

Na Ren, Shanshan Lv, Xiang Li, Chong Shao, Ziyuan Wang, Yazhao Mei, Wendi Yang, Wenzhen Fu, Yunqiu Hu, Ling Sha and 3 more

Open access · hybridAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.2field-weighted citation impact, top 23% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
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

13 authors at 1 institution in 1 country.

Na RenDepartment of Osteoporosis and Bone Disease, Shanghai Clinical Research Center of Bone Disease, Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Yishan Road 600, Shanghai, 200233, China.
Shanshan LvDepartment of Osteoporosis and Bone Disease, Shanghai Clinical Research Center of Bone Disease, Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Yishan Road 600, Shanghai, 200233, China.
Xiang LiDepartment of Osteoporosis and Bone Disease, Shanghai Clinical Research Center of Bone Disease, Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Yishan Road 600, Shanghai, 200233, China.
Chong ShaoDepartment of Osteoporosis and Bone Disease, Shanghai Clinical Research Center of Bone Disease, Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Yishan Road 600, Shanghai, 200233, China.
Ziyuan WangDepartment of Osteoporosis and Bone Disease, Shanghai Clinical Research Center of Bone Disease, Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Yishan Road 600, Shanghai, 200233, China.
Yazhao MeiDepartment of Osteoporosis and Bone Disease, Shanghai Clinical Research Center of Bone Disease, Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Yishan Road 600, Shanghai, 200233, China.
Wendi YangDepartment of Osteoporosis and Bone Disease, Shanghai Clinical Research Center of Bone Disease, Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Yishan Road 600, Shanghai, 200233, China.
Wenzhen FuDepartment of Osteoporosis and Bone Disease, Shanghai Clinical Research Center of Bone Disease, Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Yishan Road 600, Shanghai, 200233, China.
Yunqiu HuDepartment of Osteoporosis and Bone Disease, Shanghai Clinical Research Center of Bone Disease, Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Yishan Road 600, Shanghai, 200233, China.
Ling ShaDepartment of Osteoporosis and Bone Disease, Shanghai Clinical Research Center of Bone Disease, Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Yishan Road 600, Shanghai, 200233, China.
Weiwei HuDepartment of Osteoporosis and Bone Disease, Shanghai Clinical Research Center of Bone Disease, Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Yishan Road 600, Shanghai, 200233, China.
Zhenlin ZhangDepartment of Osteoporosis and Bone Disease, Shanghai Clinical Research Center of Bone Disease, Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Yishan Road 600, Shanghai, 200233, China. zhangzl@sjtu.edu.cn.
Chun WangDepartment of Osteoporosis and Bone Disease, Shanghai Clinical Research Center of Bone Disease, Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Yishan Road 600, Shanghai, 200233, China. wangchun66@sjtu.edu.cn.ORCID http://orcid.org/0000-0003-4124-1575
Shanghai Jiao Tong University · CN

Funding

Innovative Research Group Project of the National Natural Science Foundation of China 82170895Key Technologies Research and Development Program 2018YFA0800801National Natural Science Foundation of China 81770872
6 · The paper itself

Abstract

Osteoporosis-pseudoglioma syndrome (OPPG) and LRP5 high bone mass (LRP5-HBM) are two rare bone diseases with opposite clinical symptoms caused by loss-of-function and gain-of-function mutations in LRP5. Bisphosphonates are an effective treatment for OPPG patients. LRP5-HBM has a benign course, and age-related bone loss is found in one LRP5-HBM patient. PURPOSE: Low-density lipoprotein receptor-related protein 5 (LRP5) is involved in the canonical Wnt signaling pathway. The gain-of-function mutation leads to high bone mass (LRP5-HBM), while the loss-of-function mutation leads to osteoporosis-pseudoglioma syndrome (OPPG). In this study, the clinical manifestations, disease-causing mutations, treatment, and follow-up were summarized to improve the understanding of these two diseases.

methodsTwo OPPG patients and four LRP5-HBM patients were included in this study. The clinical characteristics, biochemical and radiological examinations, pathogenic mutations, and structural analysis were summarized. Furthermore, several patients were followed up to observe the treatment effect and disease progress.

resultsCongenital blindness, persistent bone pain, low bone mineral density (BMD), and multiple brittle fractures were the main clinical manifestations of OPPG. Complex heterozygous mutations were detected in two OPPG patients. The c.1455G > T mutation in exon 7 was first reported. During the follow-up, BMD of two patients was significantly improved after bisphosphonate treatment. On the contrary, typical clinical features of LRP5-HBM included extremely high BMD without fractures, torus palatinus and normal vision. X-ray showed diffuse osteosclerosis. Two heterozygous missense mutations were detected in four patients. In addition, age-related bone loss was found in one LRP5-HBM patient after 12-year of follow-up.

conclusionThis study deepened the understanding of the clinical characteristics, treatment, and follow-up of OPPG and LRP5-HBM; expanded the pathogenic gene spectrum of OPPG; and confirmed that bisphosphonates were effective for OPPG. Additionally, it was found that Ala242Thr mutation could not protect LRP5-HBM patients from age-related bone loss. This phenomenon deserves further study.

Indexed as

Bone DensityBone Density Conservation AgentsDiphosphonatesLow Density Lipoprotein Receptor-Related Protein-5MutationAdolescentAdultChildFemaleFollow-Up StudiesHumansMaleMiddle AgedOsteogenesis ImperfectaYoung AdultBone Density Conservation AgentsDiphosphonatesLow Density Lipoprotein Receptor-Related Protein-5LRP5 protein, humanHigh bone massLRP5LRP5-HBMOPPGOsteoporosisWnt

Identifiers

PMID38625381
PMCPMC11281985
OpenAlexW4394853504

What OpenQuestion holds

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LicenceCC BY-NC
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Registered trials

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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.