N20 E83.5 E72.0
Conditions
Interventions
Group 1: With the help of a recruiting physician, patients with nephrolithiasis fill in a clinical questionnaire comprising information on family history, lifestyle, phenotype, and treatment. Biochemi
Sponsors
Universitätsklinikum Leipzig, Klinik und Poliklinik für Endokrinologie und Nephrologie
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: First manifestation before age of 40 years or positive family history (first grade) or at least 3 recurrent stones or specific hereditary phenotype (e.g. cystinuria, nephrocalcinosis) or present genetic diagnose of hereditary kidney stone disease
Exclusion criteria
Exclusion criteria: Patients with secondary kidney stone disease, for instance due to primary hyperparathyroidism, malignoma, or sarcoidosis.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Mutation analysis of more than 30 known monogenic causes and phenotyping by using a clinical questionnaire and analysis of biochemical parameters in urine and serum, as well as stone composition. | — |
Secondary
| Measure | Time frame |
|---|---|
| Identification of novel genetic causes by genome/exome-wide mutation analysis in selected unresolved cases from consanguineous/multiplex families with nephrolithiasis. Furthermore mutation analysis of candidate genes in remaining unresolved cases. | — |
Countries
Germany
Contacts
Public ContactJan Halbritter
Universitätsklinikum Leipzig, Klinik und Poliklinik für Endokrinologie und Nephrologie
Outcome results
None listed