Journal of Shandong University (Health Sciences) ›› 2024, Vol. 62 ›› Issue (6): 82-90.doi: 10.6040/j.issn.1671-7554.0.2024.0064

• Clinical Medicine • Previous Articles    

Two family reports and literature review of autosomal dominant osteopetrosis type II

ZHANG Di, NIE Chenyu, LIU Jidong, HOU Xinguo, CHEN Li   

  1. Department of Endocrinology, Qilu Hospital of Shandong University, Jinan 250012, Shandong, China
  • Published:2024-07-15

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Abstract: Objective To analyze the clinical features of two patients with autosomal dominant osteopetrosis(ADO), and to explore the mutations in the causative genes in the probands and their family lines. Methods The clinical characteristics and laboratory examination data of the two ADO cases were collected and analyzed, and relevant literature was reviewed to summarize the diagnosis and treatment of the disease. Results Genetic testing revealed a new missense mutation in exon 24 of the chloride channel protein 7(CLCN7)gene, p.Gly765Cys, in proband 1, and a known missense mutation, p.Arg286Trp, in exon 10 of the CLCN7 gene in proband 2. Both probands manifested abnormally high bone mass and "sandwich" vertebral body changes, but both had normal blood calcium, phosphorus and alkaline phosphatase levels and elevated lactate dehydrogenase and creatine kinase levels. Conclusion Patients with ADO mainly exhibit abnormally high bone density, increased bone fragility and susceptibility to fracture. Currently, the disease is mostly treated symptomatically. In severe cases, anemia, thrombocytopenia with hemorrhage, frequent infections, and liver and spleen enlargement may occur. Further literature review will better summarize the clinical presentation, diagnosis and therapeutic features of ADO.

Key words: Autosomal dominant osteopetrosis, Chloride channel protein 7, Missense mutation, Fracture, Bone mineral density

CLC Number: 

  • R681
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