Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
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Nephrol. Dial. Transplant. · Oct 2014
Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population.
Inactivating mutations of the calcium-sensing receptor (CaSR), of the G-protein subunit α11 (GNA11) and of the adaptor-related protein complex 2, sigma 1 subunit (AP2S1) genes are responsible for familial hypocalciuric hypercalcaemia (FHH). The aim of this study was to analyse prevalence and pathogenicity of CaSR, GNA11 and AP2S1 mutations in patients with an FHH phenotype and to compare them with a sample of patients with primary hyperparathyroidism (PHPT) in order to identify the most useful laboratory parameter for a differential diagnosis. ⋯ FHH should be clearly differentiated by PHPT to avoid unnecessary surgery: CCCR could be a useful screening tool while genetic analysis should include the two novel CaSR mutations herein described. The role of multiple polymorphisms deserves further investigation in patients with an FHH phenotype.
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Nephrol. Dial. Transplant. · Oct 2014
A real-time electronic alert to improve detection of acute kidney injury in a large teaching hospital.
Acute kidney injury (AKI) is a common and serious problem in hospitalized patients. Early detection is critical for optimal management but in practice is currently inadequate. To improve outcomes in AKI, development of early detection tools is essential. ⋯ This is the first fully automated real time AKI e-alert system, using AKIN and RIFLE criteria, to be introduced to a large National Health Service hospital. It has provided one of the biggest single-centre AKI datasets in the UK revealing mortality rates which increase with AKI stage. It is likely to have improved detection and management of AKI. The methodology is transferable to other acute hospitals.
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Nephrol. Dial. Transplant. · Sep 2014
Renal replacement therapy for rare diseases affecting the kidney: an analysis of the ERA-EDTA Registry.
In recent years, increased efforts have been undertaken to address the needs of patients with rare diseases by international initiatives and consortia devoted to rare disease research and management. However, information on the overall prevalence of rare diseases within the end-stage renal disease (ESRD) population is limited. The aims of this study were (i) to identify those rare diseases within the ERA-EDTA Registry for which renal replacement therapy (RRT) is being provided and (ii) to determine the prevalence and incidence of RRT for ESRD due to rare diseases, both overall and separately for children and adults. ⋯ More than half of all children and one of nine adults on RRT in the ERA-EDTA Registry suffer from kidney failure due to a rare disease, potentially with a large number of additional undiagnosed or miscoded cases. Comprehensive diagnostic assessment and the application of accurate disease classification systems are essential for improving the identification and management of patients with rare kidney diseases.