Renal tubulopathy-related disorders
Conditions
Interventions
None listed
Sponsors
Radboud Universitair Medisch Centrum
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: * The patient must have had genetic screening that did not result in a genetic diagnosis explaining the phenotype, performed at the Radboudumc * The patient must have clinical proof of renal loss of salts, HCO3-, acid, glucose, amino acids, low molecular weight proteins, and/or water, as such presenting with a phenotype that suggests a renal tubulopathy is present
Exclusion criteria
Exclusion criteria: Patients with a previous (genetic) diagnosis fully explaining their renal tubulopathy-related phenotype
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| * Patient data, including but not limited to primary phenotype, original clinical diagnosis, family history, age, and sexs * Genetic profiles of patients, as obtained using previous (routine) genetic testing, or newly obtained whole exome sequencing, mitochondrial DNA screening, and whole genome sequencing data | — |
Secondary
| Measure | Time frame |
|---|---|
| * To determine the ion transporter function of the patients in specific parts of the renal tubules based on different tests, e.g., the thiazide, furosemide, furosemide-fludrocortisone, and DDAVP tubular function tests. These tests will be performed based on the patient's specific phenotype, or after a genetic variant (either an already known variant or a VUS) was found that is thought to hamper tubule function. To get a better understanding of the phenotype as well as the effect of the variant on the phenotype and the specific parts of the renal tubules. * To identify and investigate novel mutations both within and outside of the standard renal WES panel. * In case of a mitochondrial variant with unknown significance, to determine the heteroplasmy level of a mtDNA variant in blood, urine, and fibroblasts of participants, as well as the mitochondrial function based on fibroblast culture from skin biopsies. * To investigate the use of advanced urine diagnostics to improve screening of patients using urinary extracellular vesicles (uEVs) and adult stem cells (ASCs). * Laboratory parameters will mainly be retrieved from the patient records by the treating physician and anonymously shared with the research team. When the necessary evaluations are not recent or not available, blood will be drawn for these laboratory evaluations at the Radboudumc. For each analysis, the values will be compared to normal reference values. | — |
Countries
Netherlands
Outcome results
None listed