20 results
- To evaluate the demographic, clinical and genetic characteristics of all known patients with a diagnosis of cystinuria and cystine nephrolithiasis in the Netherlands.- To evaluate the relationship between genotype and phenotype of all known…
The main objective of this research is to contribute to the elimination of disparities in care between Dutch and non-Dutch kidney patients where living donation is concerned. The primary objective is evaluating the effectiveness of an intervention…
exclusion or demonstration of a diverticulum in patients undergoing a laparoscopic pull-through
Objective: To analyze in more detail the complement activation and regulation and especially the functional CFH activity following three types of interventions in patients known with HUS and correlate these to clinical findings. The three…
To elucidate the molecular mechanisms underlying renal disease that lead to chronic kidney disease. To validate pathogenic variations in functional in vivo models.
Does the lack of the Aquaporin-2 water channel cause cyst formation in patients suffering from nephrogenic diabetes insipidus?
The main objective of the study is to construct reference curves for fetal bladder diameters and volume in the second and third trimester of pregnancy. Moreover we will investigate the variation in the dimensions of renal pelvis in relation to the…
Primary Objective: Mapping the consequences of a congenital monokidney on kidney function for children with MCKD.Secondary Objective(s): - Giving recommendations about follow-up for children treated with nephrectomy for MCKD.- Defining better blood…
The purpose of the trial is to determine the effect of multiple doses of tolvaptan on renal function in patients with autosomal dominant polycystic kidney disease (ADPKD) at various stages of renal function. Additionally, the short-term renal…
(i) To compare the DBF response to capsaicin between cystinosis patients, homozygous and heterozygous for the 57-kb deletion, and matched controls.(ii) To compare the skin sensitivity response after capsaicin application between cystinosis patients,…
We aim to increase patient compliance by extending the existing treatment protocol of (oral or intravesical) anticholinergics plus application of CIC with the addition of bladder pressure measurement performed at home during CIC plus access to an…
First, to demonstrate whether Lanreotide attenuates progression of the renal phenotype in ADPKD patients as measured by change in rate of renal function decline and change in renal volume. Second, to demonstrate whether Lanreotide modifies…
THE KIMONO-STUDY is designed to study the consequences of having an SFK from childhood. Furthermore, a tailor made risk profil will be designed for children with an SFK, based on individual risk factor (for example co-morbidity, genetic aberrations…
The objective of this extension study is to find out the potential long-term benefits and safety of tolvaptan. During this study all participants will receive tolvaptan.PRIMARY OBJECTIVE is to demonstrate whether tolvaptan modifies ADPKD progression…
Overall aim: Given the aforementioned rationale it is therefore important to know the natural course of the disease and stage specific morbidity and mortality factors in a longitudinal observational study, to evaluate the levels of and associations…
The main objective is to investigate whether the variant indeed cause mitochondrial dysfunction leading to the observed phenotype, including characterization of the pathophysiology.
Primary objective is to design a non-invasive, bedside monitoring strategy for early detection of renal graft hypoperfusion after pediatric kidney transplantation, using transabdominal ultrasonography and biomarker surveillance in serum and urine.…
• Estimate the prevalence of APOL1 genotypes among individuals with FSGS who identify themselves as being of recent African ancestry or geographic origin• Estimate the prevalence of APOL1 genotypes among individuals with other forms of proteinuric…
To investigate copeptin levels in pediatric polyuric tubulopathies such as Nephrogenic Diabetes Insipidus (NDI), Renal Fanconi syndrome and Bartter syndrome to use it as biomarker for the volume state of these patients.
In this study, we aim to improve the genetic diagnosis of patients with genetic renal tubulopathy-related disorders. We hypothesize that a higher diagnostic yield can be obtained by genetic re-screening of patients using the updated renal gene panel…