X linked hypophosphatemia rickets or osteomalacia
Conditions
Interventions
case series:None
Sponsors
Shanghai Sixth People's Hospital
Eligibility
Sex/Gender
All
Age
No minimum to 100 Years
Inclusion criteria
Inclusion criteria: 1. The patient is highly suspected to be X-linked dominant hypophosphate rickets/osteomalacia, with unexplained lower extremity deformities, gait abnormalities, bone pain, lower extremity weakness, difficulty walking, limited joint mobility, abnormal bone density, and abnormal tooth development; 2. The patient had growth and development delay in the past, was significantly lower in height than her peers or had abnormal body proportion (compared with the upper lower volume of the same age); 3. The patient has an obvious family history or is the offspring of inbreeding, and the disease starts at an early age; 4. The patient had obvious biochemical abnormalities, such as blood phosphorus lower than the normal reference value of peers, or (and) imaging examination showed abnormal bone development, such as knee varus or eversion, false fracture line, etc.; 5. Patients sign informed consent in person, indicating that they have been informed of all the content related to the study; 6. Patient is willing and able to comply with study visit arrangements, laboratory examinations, and other study procedures.
Exclusion criteria
Exclusion criteria: 1. Patients or their guardians refuse to take blood samples; 2. Using alcohol and/or mentally active drug, drug abuse and dependence; 3. Other patients considered unsuitable for the study by the researcher.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Fibroblast growth factor 23; | — |
Countries
China
Contacts
Public ContactZhang Zhenlin
Outcome results
None listed