Diagnostic value of low alkaline phosphatase activity in diagnosing hypophosphatasia (HPP)
Recruiting
- Conditions
- E83.38
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- All
- Target Recruitment
- 50
Inclusion Criteria
Signed informed consent
Age <18 years at the time of determination of AP activity
AP activity <age and gender specific limit
Exclusion Criteria
Patients who do not meet the age requirement
Patients with normal AP activity
Patients with a diagnosis of primary oncological disease, or anemia, or hypothyroidism, or anorexia nervosa, or celiac disease, or Wilson's disease
Patients with Z.n. Bulk transfusion of blood products
Patients with magnesium deficiency or zinc deficiency
Study & Design
- Study Type
- observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Evaluation of decreased serum PA as an indicator of the presence of HPP by using a diagnostic algorithm in pediatric patients
- Secondary Outcome Measures
Name Time Method Correlations between clinical symptoms, muscle strength, enzyme activity, concentration of metabolite metabolites in serum / urine (and genotype), if a sufficient number of patients can be identified.<br><br>Better characterization of the disease by identifying patients HPP<br><br>Identification of other causes of decreased AP activity and evaluation of their frequency distribution.