hypophosphatemic rickets caused by PHEX gene mutation
Conditions
Interventions
Sponsors
Shanghai Jiaotong University Affiliated Sixth People's Hospital
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. patients with the definite diagnosis of hypophosphatemic rickets confirmed by genetic screening, and the age was <18 years old or the epiphysis was not closed; 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.
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 |
|---|---|
| Growth index assessment;Bone disease assessment;Biochemical detection index;X-ray film;bone mineral density; | — |
Countries
China
Contacts
Public ContactZhenlin Zhang
Shanghai Jiaotong University Affiliated Sixth People's Hospital
Outcome results
None listed