hypophosphatasia
Conditions
Interventions
Patients with hypophosphatasia:Teriparatide 20ug, qn, subcutaneously.
normal people:None
Sponsors
Shanghai Sixth People's Hospital
Eligibility
Sex/Gender
All
Age
18 Years to 90 Years
Inclusion criteria
Inclusion criteria: 1. Establishing reference intervals for PLP and PPi in the Chinese population: Participants will include adult males and females aged 18–79 years with normal liver, kidney, and cardiopulmonary function, no history of excessive alcohol consumption or smoking in the recent period, no medication use, no history of surgery or hospitalization, and no history of obesity, diabetes, hypertension, malignancy, or familial genetic disorders. 2. HPP study cohort: (1) Patients with ALPL gene pathogenic mutations confirmed through genetic testing; (2) Voluntary participation in this study.
Exclusion criteria
Exclusion criteria: 1. Establishing reference intervals for PLP and PPi in the Chinese population: abnormal liver and kidney function, hypertension, diabetes mellitus, history of hyperlipidaemia, anaemia, history of malignant tumours, long term or recent blood donation, pregnancy or breastfeeding, long term smoking or alcoholism, and blood donation within 3 months. 2. HPP study cohort: (1) Other causes of low ALP levels, such as skeletal diseases (e.g., cranioclavicular dysplasia, osteogenesis imperfecta), non-skeletal diseases (e.g., Cushing's syndrome, Wilson's disease, hypothyroidism, multiple myeloma, zinc or magnesium deficiencies, vitamin B12 deficiencies, and pernicious anaemia, coeliac disease, malnutrition), and the use of drugs (e.g., anti-bone resorption drugs, glucocorticosteroids, corticosteroids, and other medications), and the use of drugs (e.g., anti-drugs). resorption drugs, glucocorticoids, oral contraceptives); (2) poor compliance and inability to follow up regularly; (3) unwillingness to participate in this study.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| bone mineral density;alkaline phosphatase;PLP;inorganic pyrophoaphate; | — |
Countries
China
Contacts
Public ContactChun Wang
Shanghai Sixth People's Hospital
Outcome results
None listed