national registry of rare kidney diseases

Conditions: Adenine Phosphoribosyltransferase Deficiency; AH Amyloidosis; AHL Amyloidosis; AL Amyloidosis; Alport Syndrome; Atypical Hemolytic Uremic Syndrome; Autoimmune Distal Renal Tubular Acidosis; Autosomal Recessive Proximal Renal Tubular Acidosis; Autosomal Recessive Distal Renal Tubular Acidosis; Autosomal Dominant Polycystic Kidney Disease; Autosomal Recessive Polycystic Kidney Disease; Bartter Syndrome; BK Nephropathy; C3 Glomerulopathy With Monoclonal Gammopathy; C3 Glomerulopathy; Calciphylaxis; Crystalglobulinaemia; Crystal-storing Histiocytosis; Cystinosis; Cystinuria; Dense Deposit Disease; Dent Disease; Denys-Drash Syndrome; Dominant Hypophosphataemia With Nephrolithiasis and/or Osteoporosis; Drug Induced Fanconi Syndrome; Drug-Induced Hypomagnesemia; Drug-Induced Nephrogenic Diabetes Insipidus; Epilepsy, Ataxia, Sensorineural Deafness and Tubulopathy; Fabry Disease; Familial Hypomagnesemia With Hypercalciuria and Nephrocalcinosis; Familial Primary Hypomagnesemia With Hypocalcuria; Familial Primary Hypomagnesaemia With Normocalciuria; Familial Renal Glucosuria; Fanconi Renotubular Syndrome 1; Fanconi Renotubular Syndrome 2; Fanconi Renotubular Syndrome 3; Fibrillary Glomerulonephritis; Fibromuscular Dysplasia; Focal Segmental Glomerulosclerosis; Generalised Pseudohypoaldosteronism Type 1; Gitelman Syndrome; Heavy-Metal-Induced Fanconi Syndrome; Hepatocyte Nuclear Factor 1-Beta-Associated Monogenic Diabetes; Hereditary Renal Hypouricemia; Hereditary Hypophosphatemic Rickets With Hypercalciuria; Hyperuricaemic Nephropathy; IgA Nephropathy; Immunotactoid Glomerulonephritis With Organised Microtubular Mononoclonal Immunoglobulin Deposits; Inherited Renal Cancer Syndromes; Intracapillary Monoclonal IgM Without Cryoglobulin; Intraglomerular/Capillary Lymphoma/Leukaemia; Isolated Autosomal Dominant Hypomagnesaemia Glaudemans Type; Liddle Syndrome; Light Chain Cast Nephropathy; Light Chain Proximal Tubulopathy Without Crystals; Light Chain Proximal Tubulopathy With Crystals; Lowe Syndrome; Membranous Nephropathy; Membranoproliferative Glomerulonephritis; Medullary Cystic Kidney Disease; Minimal Change Nephropathy; Mitochondrial Disease Of The Kidney; Monoclonal Immunoglobulin Deposition Disease; Nail Patella Syndrome; Nephrogenic Diabetes Insipidus; Nephrogenic Syndrome of Inappropriate Antidiuresis; Nephronophthisis; Primary Hypomagnesemia With Secondary Hypocalcemia; Primary Hyperoxaluria; Proliferative Glomerulonephritis With Monoclonal IgG Deposits; Proximal Tubulopathy Without Crystals; Pseudohypoaldosteronism Type 1, 2A-2E; Pure Red Cell Aplasia; Retroperitoneal Fibrosis; Sickle Cell Nephropathy; Shiga Toxin Associated Haemolytic Uraemic Syndrome; Steroid Resistant Nephrotic Syndrome; Steroid-Sensitive Nephrotic Syndrome; Thin Basement Membrane Nephropathy; Thrombotic Microangiopathy With Monoclonal Gammopathy; Type 1 Cryoglobulinaemic Glomerulonephritis; Tuberous Sclerosis; Unclassified Monoclonal Gammopathy Of Renal Significance; Vasculitis

Summary: the goal of this national registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research. the purpose of this research is to: * develop clinical guidelines for specific rare kidney diseases. these are written recommendations on how to diagnose and treat a medical condition. * audit treatments and outcomes. an audit makes checks to see if what should be done is being done and asks if it could be done better. * further the development of future treatments. participants will be invited to participate on clinical trials and other studies. the registry has the capacity to feedback relevant information to patients and in conjunction with patient knows best (home - patients know best), allows patients to provide information themselves, including their own reported quality of life and outcome measures.

background rare diseases are arbitrarily defined as having an incidence such that they cannot be studied effectively on patient groups drawn from one or a few medical centres. a high proportion of such disorders have a genetic background and often these diseases are first expressed in childhood. the success of chronic and end-stage renal failure programmes in childhood permit increased numbers of these patients to survive into adulthood. there are 13 centres for paediatric nephrology in the uk. for a rare disorder that a paediatric nephrologist might diagnosis only once a year, and assuming 100% survival to adulthood, a renal physician might be asked to take over such a case only once in seven or eight years of practice. research is hampered by this dilution of clinical experience. similarly in adult practice there are rare complications of diseases or their treatment so that a nephrologist might encounter such an event less often than once in every 5 years. national aggregation of clinical experience is essential to further study. research groups investigating a rare disease (rare disease groups, rdgs) have difficulty accessing patients who are widely distributed. while rare disease groups are often successful in identifying novel genotypes in a few individuals, it is more difficult to define phenotype and undertake phenotype-genotype correlations. moreover, the scarcity of patients makes it difficult to develop biomarkers or identify well-defined cohorts in which to test novel treatments. as a result, the progression and outcome for many rare diseases are unknown and treatment remains underdeveloped. purpose the purpose of the national registry of rare kidney diseases (radar; rare disease registry) is to facilitate translational and epidemiological research into rare kidney diseases by setting up and maintaining a comprehensive clinical database in partnership with rare disease groups. radar facilitates the identification of well-characterized cohorts of patients who may be invited to participate in clinical trials, the development of biomarkers, phenotype-genotype correlations or outcome studies. this will inform the development of clinical guidelines for specific rare diseases, audit treatment and outcome and further the development of future therapies. radar provides an infrastructure to capture both generic and disease-specific clinical information and to collate longitudinal information. patients and clinicians can view information about the conditions covered by radar on rarerenal.org, which links closely with radar. radar is predominately aimed at uk patients; however international recruits who are consented in the uk by an nhs hospital are also eligible, subject to local approval.

Eligibility criteria:
* kidney rare disease * paeds and adults * eligibility differs for each rare disease group * see: https://ukkidney.org/rare-renal/recruitment