Exeter Kidney Unit (Renal)
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Research outputs from the Exeter Kidney Unit (Renal services) at the RD&E.
Recent Submissions
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Development and Standardization of an Improved Type 1 Diabetes Genetic Risk Score for Use in Newborn Screening and Incident Diagnosis.
(American Diabetes Association, 2019-02)Previously generated genetic risk scores (GRSs) for type 1 diabetes (T1D) have not captured all known information at non-HLA loci or, particularly, at HLA risk loci. We aimed to more completely incorporate HLA alleles, ... -
A prospective observational study of iron isomaltoside in haemodialysis patients with chronic kidney disease treated for iron deficiency (DINO).
(BioMed Central, 2019-01-10)Iron deficiency is frequent in haemodialysis (HD) patients with chronic kidney disease (CKD), and intravenous iron is an established therapy for these patients. This study assessed treatment routine, effectiveness, and ... -
Young adults' perspectives on living with kidney failure: a systematic review and thematic synthesis of qualitative studies.
(BMJ, 2018-01)Young adults fare worse than younger adolescents or older adults on a broad range of health indicators. Those with a chronic illness such as renal failure are a particularly vulnerable group, who experience poor outcomes ... -
Genome-wide methylomic analysis in individuals with HNF1B intragenic mutation and 17q12 microdeletion.
(BioMed Central, 2018-07-18)Heterozygous mutation of the transcription factor HNF1B is the most common cause of monogenetic developmental renal disease. Disease-associated mutations fall into two categories: HNF1B intragenic mutations and a 1.3 Mb ... -
Prescribing analgesia for patients with impaired renal function.
(Mark Allen Group, 2018-05-02) -
Clinical and research uses of genetic risk scores in type 1 diabetes.
(Elsevier, 2018-04-24)Type 1 diabetes (T1D) is a chronic disease of high blood glucose caused by autoimmune destruction of pancreatic beta cells eventually resulting in severe insulin deficiency. T1D has a significant heritable risk. Genetic ... -
Exocrine pancreatic dysfunction is common in hepatocyte nuclear factor 1β–associated renal disease and can be symptomatic
(Oxford Journals, 2018-01-30) -
Immunosuppressive agents in adult kidney transplantation in the National Health Service: a model-based economic evaluation.
(Oxford Academic, 2017-07-01)Immunosuppression is required in kidney transplantation to prevent rejection and prolong graft survival. We conducted an economic evaluation to support England's National Institute for Health and Care Excellence in developing ... -
Meningococcal B Vaccine Failure With a Penicillin-Resistant Strain in a Young Adult on Long-Term Eculizumab.
(American Academy of Pediatrics, 2017-09)We describe a case of invasive meningococcal disease due to a vaccine-preventable and penicillin-resistant strain in a fully immunized young adult on long-term complement inhibitor therapy and daily penicillin chemoprophylaxis. ... -
Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report.
(BioMed Central, 2017-07-12)Heterozygous mutations in the gene encoding renin (REN) cause autosomal dominant tubulointerstitial kidney disease (ADTKD), early-onset anaemia and hyperuricaemia; only four different mutations have been described in the ... -
Immunosuppressive therapy for kidney transplantation in adults: a systematic review and economic model.
(NIHR, 2016-08)End-stage renal disease is a long-term irreversible decline in kidney function requiring renal replacement therapy: kidney transplantation, haemodialysis or peritoneal dialysis. The preferred option is kidney transplantation, ... -
beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors.
(Highwire, 2001-02)beta-Cell transcription factor genes are important in the pathophysiology of the beta-cell, with mutations in hepatocyte nuclear factor (HNF)-1alpha, HNF-4alpha, insulin promoter factor (IPF)-1, HNF-1beta, and NeuroD1/BETA2, ... -
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.
(BMJ, 2014-03)Mutation specific effects in monogenic disorders are rare. We describe atypical Fanconi syndrome caused by a specific heterozygous mutation in HNF4A. Heterozygous HNF4A mutations cause a beta cell phenotype of neonatal ... -
Assessment of the HNF1B Score as a Tool to Select Patients for HNF1B Genetic Testing.
(Karger, 2015-05-22)Diagnosing hepatocyte nuclear factor 1β (HNF1B)-related disease is a challenging task due to the phenotypic variability and frequent absence of a family history. An HNF1B score has recently been developed to help select ... -
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.
(BMJ, 2014-03)Mutation specific effects in monogenic disorders are rare. We describe atypical Fanconi syndrome caused by a specific heterozygous mutation in HNF4A. Heterozygous HNF4A mutations cause a beta cell phenotype of neonatal ... -
Safety and feasibility of dobutamine stress cardiac magnetic resonance for cardiovascular assessment prior to renal transplantation.
(Wolters Kluwer, 2014-04)Current guidelines recommend cardiovascular risk assessment prior to renal transplantation. There is currently no evidence for the role of cardiovascular magnetic resonance (CMR) in this population, despite an established ... -
End-Stage Renal Disease (ESRD): Physical Activity and Elucidation of Its Effects on Biochemical and Haematological Parameters in Haemodialysis Patients
(iMedPub, 2016-08-02)End-stage renal disease (ESRD) is a progressive disorder for which there is no prospect of recovery, and for which patients receive regular haemodialysis. In ESRD the ability of the kidneys to excrete metabolic waste ... -
Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.
(Elsevier, 2016-05-24)Heterozygous mutations of the HNF1B gene are the commonest known monogenic cause of developmental kidney disease. Half of patients have a deletion (approximately 1.3 Mb) of chromosome 17q12, encompassing HNF1B plus 14 ...
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