hereditary Osteopetrosis
Conditions
Interventions
Sponsors
Shanghai Sixth People's Hospital
Eligibility
Sex/Gender
All
Age
No minimum to 99 Years
Inclusion criteria
Inclusion criteria: (1) Osteopetrosis with clear clinical diagnosis (2) We have completed gene testing and confirmed the presence of TCIRG1, CLCN7, CA II, SNX10, TNFSF11, PLEKHM1, SLC29A3, and NEMO mutations (homozygous or compound heterozygous mutations, among which CLCN7 and PLEKHM1 can also be heterozygous mutations). (3) Volunteer to participate in this study
Exclusion criteria
Exclusion criteria: (1) High bone mass syndrome caused by other reasons, such as osteoarthritis, progressive diaphyseal dysplasia, melorheostosis, Paget bone disease, Erdheim Chester disease, etc (2) Poor compliance, unable to follow up regularly (3) Not willing to participate in this study
Design outcomes
Secondary
| Measure | Time frame |
|---|---|
| hypercalcemia;veno-occlusive disease, VOD;graft versus host disease, GVHD; | — |
Primary
| Measure | Time frame |
|---|---|
| 3-year survival rate; | — |
Countries
China
Contacts
Public ContactChun Wang
Shanghai Sixth People's Hospital
Outcome results
None listed