Genetic Skeletal Disorder
Conditions
Interventions
Case series:Nil
Sponsors
Shandong Provincial Hospital
Eligibility
Sex/Gender
All
Age
1 Years to 80 Years
Inclusion criteria
Inclusion criteria: 1. Patients with the definite diagnosis of hypophosphatemic rickets confirmed by genetic screening; 2. Signing the informed consent form in person by the patients or his family members, indicating that the patients has been informed of all the relevant research contents; 3. Patients and their families are willing and able to cooperate with research-related medical history collection, full examination, intervention treatment and other research procedures; 4. Patients or parents can clearly describe their fracture history and development history, and parents can clearly describe the physical condition during pregnancy and answer truthfully.
Exclusion criteria
Exclusion criteria: 1. other inherited skeletal dysplasias identified with other gene mutations through genetic screenin; 2. rickets caused by nutritional deficiency, such as vitamin D intake insufficiency, absorption and metabolic disorders; 3. long-term use of drugs that affect bone metabolism, such as glucocorticoids, adrenaline or synthetic steroids, anticonvulsants; 4. patients with other serious diseases, such as osteosarcoma, malignant hematologic diseases; 5. other causes of abnormal bone metabolism, such as metal poisoning, high-fluoride intake; 6. other causes of osteopathy, such as trauma, long-term immobilization; 7. patients the researchers believe should not participate in the test.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Bone density;Bone X-ray;Bone metabolism test; | — |
Countries
China
Contacts
Public ContactJiajun Zhao
Shandong Provincial Hospital
Outcome results
None listed