The Renal Genetic and Tubular Disorders (RGTD) service at Addenbrooke's is a multidisciplinary NHS outpatient clinic serving those with inherited, heritable and tubular disorders. From the research perspective, in addition to improving outcomes for our patients, our aims include
- evaluating potential biomarkers for inherited renal disorders
- investigating mechanisms of disease in renal tubular disorders
- development and implementation of further specific diagnostic tests
- development of improved care pathways for patients and their families
As examples, we have just completed an analysis of genotype-phenotype correlations in our cohort of 142 PKD patients, including in-house established PKD2 testing, to inform clinical guidelines for future genetic testing; we have identified and characterized a novel complex UMOD mutation in four large families that has allowed predictive testing for the first time; in collaboration with Clinical Biochemistry we have set up new urinary assays for UMOD protein and for retinol-binding protein (a marker of proximal tubular dysfunction); and we have assessed dipstick versus meter measurements of urinary pH, which is a necessary but underused part of the management of stone disease. In addition we have this year achieved Gene Dossier approval for a further three renal disease genes (PKD1, ATP6V1B1 and ATP6V0A4). Our NIHR portfolio study has registered over 200 patients.