Gitelman Syndrome

Researchers are collecting information from patients with rare kidney diseases to support research and improve care. This National Registry of Rare Kidney Diseases (RaDaR) aims to develop clinical guidelines, audit treatments and outcomes, and help develop future therapies by gathering comprehensive data. Rare kidney diseases often have genetic causes and affect patients from childhood into adulthood, but their rarity makes research and treatment development challenging. The registry gathers clinical data and biological samples from various rare kidney disease groups, each focusing on conditions like Alport Syndrome, APRT Deficiency, Polycystic Kidney Disease, and many others. It connects patients and clinicians and allows patients to contribute information about their quality of life. This infrastructure enables identification of patient groups for clinical trials, biomarker development, and genotype-phenotype studies. Participants provide clinical and disease-specific information over time, which supports epidemiological and translational research. The registry facilitates patient recruitment for studies, improves patient and clinician education, and provides access to current knowledge about rare kidney diseases. The registry is ongoing and primarily includes UK patients but also accepts international participants consented through UK NHS hospitals.

This research aims to understand how specific components of the renin-angiotensin-aldosterone system, uric acid, and klotho contribute to high blood pressure and related damage in children and adolescents aged 7 to 18 years. It compares children newly diagnosed with primary hypertension to healthy controls, investigating how these biological factors affect the heart, kidneys, blood vessels, and brain over time. The study focuses on the variability in disease traits and treatment responses using detailed biological and clinical measurements. Participants are divided into two groups: children with newly diagnosed primary hypertension and healthy children with normal blood pressure. Blood and urine samples are collected to analyze levels of various substances such as Ang-(1-7), ACE2, and uric acid. Blood pressure, heart function and structure, kidney function, autonomic nervous system function, and vascular function are measured at the start, after one year (for both groups), and after two years (for the hypertension group), allowing researchers to observe changes over time and responses to treatment. Throughout the study, participants undergo multiple assessments including blood and urine tests, blood pressure monitoring, echocardiograms, and measurements of autonomic and vascular function. These evaluations occur at baseline, one year, and two years to track health changes and treatment effects. The study also monitors changes in biomarkers and organ function to better understand hypertension's impact and guide future patient care. Participants and their caregivers are expected to commit to completing all assessments during the study period.

This research investigates the osteoarticular features in patients who have clinically and genetically confirmed Gitelman Syndrome. The study focuses on screening these patients for calcium pyrophosphate deposition disease (CPPD) and collecting clinical data and imaging findings to better understand joint and bone manifestations associated with this condition. Participants diagnosed with Gitelman Syndrome undergo screening for CPPD using conventional radiographs or computed tomography scans. These imaging tests help detect signs of chondrocalcinosis, which is the calcification of cartilage, a key feature of CPPD. During the study, researchers gather clinical and radiographic information from enrolled patients to analyze the presence and characteristics of CPPD. The main outcome measured is whether chondrocalcinosis is present from the time of enrollment through the screening process. The study is observational and does not involve treatment interventions. Participant involvement includes imaging assessments and data collection, with monitoring continuing until the CPPD screening is completed.