<HashMap><database>biostudies-literature</database><scores/><additional><omics_type>Unknown</omics_type><volume>95</volume><submitter>Dinh H</submitter><pubmed_abstract>&lt;h4>Introduction and importance&lt;/h4> Autosomal recessive osteopetrosis (ARO) is a group of disease characterized by osteoclast dysfunction inhibiting bone resorption and bone turnover, with TCIRG1-associated ARO leading to autosomal recessive infantile malignant osteopetrosis (OPTB1, MIM entry number # 259700). While most patients with TCIRG1-associated osteopetrosis present a malignant clinical course and shortened lifespan, a few cases of mild osteopetrosis associated with TCIRG1 have been reported recently. In this study we report a rare case of non-malignant TCIRG1-associated osteopetrosis, with detail clinical characterization, genetic analysis and underwent successful total hip replacement surgery. &lt;h4>Case presentation&lt;/h4> 24-year-old female patient came to us with limp gait, hip p</pubmed_abstract><journal>International journal of surgery case reports</journal><full_dataset_link>https://www.ebi.ac.uk/biostudies/studies/S-EPMC9178469</full_dataset_link><repository>biostudies-literature</repository><pubmed_title>Successful total hip arthroplasty for patient with TCIRG1-associated autosomal recessive osteopetrosis</pubmed_title><pmcid>PMC9178469</pmcid><pubmed_authors>Dinh H</pubmed_authors><pubmed_authors>Tran T</pubmed_authors><pubmed_authors>Nguyen T</pubmed_authors><pubmed_authors>Minh T</pubmed_authors><pubmed_authors>Luong L</pubmed_authors><pubmed_authors>Trung T</pubmed_authors></additional><is_claimable>false</is_claimable><name>Successful total hip arthroplasty for patient with TCIRG1-associated autosomal recessive osteopetrosis</name><description>&lt;h4>Introduction and importance&lt;/h4> Autosomal recessive osteopetrosis (ARO) is a group of disease characterized by osteoclast dysfunction inhibiting bone resorption and bone turnover, with TCIRG1-associated ARO leading to autosomal recessive infantile malignant osteopetrosis (OPTB1, MIM entry number # 259700). While most patients with TCIRG1-associated osteopetrosis present a malignant clinical course and shortened lifespan, a few cases of mild osteopetrosis associated with TCIRG1 have been reported recently. In this study we report a rare case of non-malignant TCIRG1-associated osteopetrosis, with detail clinical characterization, genetic analysis and underwent successful total hip replacement surgery. &lt;h4>Case presentation&lt;/h4> 24-year-old female patient came to us with limp gait, hip p</description><dates><release>2022-01-01T00:00:00Z</release><publication>2022 Jun</publication><modification>2025-04-22T08:50:36.128Z</modification><creation>2025-04-05T22:40:47.386Z</creation></dates><accession>S-EPMC9178469</accession><cross_references/></HashMap>