Evidence map›Paper›PMID 40462430›Full record

ArticleZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics2025

[Clinical and genetic characteristics of osteopetrosis in children].

Min Wang, Ao-Shuang Jiang, Cheng-Lin Zhu, Jie Wang, Ya-Ping Wang, Shan Gao, Yan Li, Tian-Ping Chen, Hong-Jun Liu, Jian Wang

Abstract readEnglish Abstract
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Article in Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Min WangDepartment of Hematology and Oncology, Anhui Provincial Children's Hospital, Hefei 230022, China.
Ao-Shuang JiangDepartment of Hematology and Oncology, Anhui Provincial Children's Hospital, Hefei 230022, China.
Cheng-Lin ZhuDepartment of Hematology and Oncology, Anhui Provincial Children's Hospital, Hefei 230022, China.
Jie WangDepartment of Hematology and Oncology, Anhui Provincial Children's Hospital, Hefei 230022, China.
Ya-Ping WangDepartment of Hematology and Oncology, Anhui Provincial Children's Hospital, Hefei 230022, China.
Shan GaoDepartment of Hematology and Oncology, Anhui Provincial Children's Hospital, Hefei 230022, China.
Yan LiDepartment of Hematology and Oncology, Anhui Provincial Children's Hospital, Hefei 230022, China.
Tian-Ping ChenDepartment of Hematology and Oncology, Anhui Provincial Children's Hospital, Hefei 230022, China.
Hong-Jun LiuDepartment of Hematology and Oncology, Anhui Provincial Children's Hospital, Hefei 230022, China.
Jian WangDepartment of Hematology and Oncology, Anhui Provincial Children's Hospital, Hefei 230022, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesTo study the clinical and genetic characteristics of osteopetrosis (OPT) in children.

methodsA retrospective analysis was performed on the clinical data of 14 children with OPT. Whole-exome sequencing was used to detect pathogenic genes, and clinical phenotypes and genotypic features were summarized.

resultsAmong the 14 children (10 males and 4 females), the median age at diagnosis was 8 months. Clinical manifestations included systemic osteosclerosis (14 cases, 100%), anemia (12 cases, 86%), infections (10 cases, 71%), thrombocytopenia (9 cases, 64%), hepatosplenomegaly (8 cases, 57%), and developmental delay (5 cases, 36%). Malignant osteopetrosis (MOP) cases had lower platelet counts, creatine kinase isoenzyme, and serum calcium levels, but higher white blood cell counts, lactate dehydrogenase, and alkaline phosphatase levels compared to non-MOP cases (

conclusionsClinical phenotypes of OPT in children are heterogeneous, predominantly involving

Indexed as

OsteopetrosisChildChild, PreschoolChloride ChannelsFemaleHumansInfantMaleMutationReceptor Activator of Nuclear Factor-kappa BRetrospective StudiesVacuolar Proton-Translocating ATPasesChloride ChannelsCLCN7 protein, humanReceptor Activator of Nuclear Factor-kappa BTCIRG1 protein, humanTNFRSF11A protein, humanVacuolar Proton-Translocating ATPasesChildCLCN7 geneGene variantOsteopetrosisTCIRG1 gene

Identifiers

PMID40462430
PMCPMC12169871

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