E83.38
Conditions
Interventions
Group 1: Laboratory data of children from the Freiburg area are examined for the presence of reduced AP activity and their status as an indicator for the presence of HPP in children is evaluated.
Pati
Sponsors
Zentrum für Kinder und Jugendmedizin Universitätsklinik Freiburg
Eligibility
Sex/Gender
All
Age
No minimum to 18 Years
Inclusion criteria
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
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Evaluation of decreased serum PA as an indicator of the presence of HPP by using a diagnostic algorithm in pediatric patients | — |
Secondary
| Measure | Time frame |
|---|---|
| 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. Better characterization of the disease by identifying patients HPP Identification of other causes of decreased AP activity and evaluation of their frequency distribution. | — |
Countries
Germany
Contacts
Public ContactCorinna Brichta
Zentrum für Kinder- und Jugendmedizin Uniklinik Freiburg
Outcome results
None listed