5 results
Does the lack of the Aquaporin-2 water channel cause cyst formation in patients suffering from nephrogenic diabetes insipidus?
• 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…
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…