Successful total hip arthroplasty for patient with TCIRG1-associated autosomal recessive osteopetrosis

ABSTRACT:

Introduction and importance

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.

Case presentation

24-year-old female patient came to us with limp gait, hip p

SUBMITTER: Dinh H 

PROVIDER: S-EPMC9178469 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature