15 results
Does the lack of the Aquaporin-2 water channel cause cyst formation in patients suffering from nephrogenic diabetes insipidus?
- 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…
exclusion or demonstration of a diverticulum in patients undergoing a laparoscopic pull-through
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…
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…
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…
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…
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…
The main objective is to investigate whether the variant indeed cause mitochondrial dysfunction leading to the observed phenotype, including characterization of the pathophysiology.
• 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…
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…
Objectives:Primary:* To evaluate the safety and tolerability of single doses of DCR-PHXC Solution for Injection (SC use) (*DCR-PHXC*) inNHV (Group A) and in patients with primary hyperoxaluria (PH) (Group B).Secondary:* To characterize the…
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.…
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…