cystinesteenlijden cystinuria
Conditions
Interventions
None listed
Sponsors
Leids Universitair Medisch Centrum
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
Inclusion criteria: - Established diagnosis of cystinuria on the basis of amino acid chromatography with or without a history of nephrolithiasis;- Minors with an established diagnosis of cystinuria on the basis of amino acid chromatography will also be included after parent approval is obtained.
Exclusion criteria
Exclusion criteria: Geen
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Clinical endpoints: - Effect of magnitude of 24-hour urinary excretion of cystine on pattern of stone formation ( stone burden, frequency of spontaneous passage of stones, frequency of lithotripsy and/or urological interventions) - Long term effects of the metabolic abnormality on renal function of patients with an established diagnosis of cystinuria - Effectiveness of current management approaches on the above outcomes (endpoint 1) Genetic endpoints: - Prevalence of known mutations. - Detection of new mutations. | — |
Countries
Netherlands
Outcome results
None listed