Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland.

Introduction: Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare genetic cause of renal impairment resulting from mutations in the MUC1, UMOD, HNF1B, REN, and SEC61A1 genes. Neither the national or global prevalence of these diseases has been determined. We aimed to establish a database of patients with ADTKD in Ireland and report the clinical and genetic characteristics of these families. Methods: We identified patients via the Irish Kidney Gene Project and referral to the national renal genetics clinic in Beaumont Hospital who met the clinical criteria for ADTKD (chronic kidney disease, bland urinary sediment, and autosomal dominant inheritance). Eligible patients were then invited to undergo genetic testing by a variety of methods including panel-based testing, whole exome sequencing and, in five families who met the criteria for diagnosis of ADTKD but were negative for causal genetic mutations, we analyzed urinary cell smears for the presence of MUC1fs protein. Results: We studied 54 individuals from 16 families. We identified mutations in the MUC1 gene in three families, UMOD in five families, HNF1beta in two families, and the presence of abnormal MUC1 protein in urine smears in three families (one of which was previously known to carry the genetic mutation). We were unable to identify a mutation in 4 families (3 of whom also tested negative for urinary MUC1fs). Conclusions: There are 4443 people with ESRD in Ireland, 24 of whom are members of the cohort described herein. We observe that ADTKD represents at least 0.54% of Irish ESRD patients.

Arrest in hospital: a study of in hospital cardiac arrest outcomes.

The effect of advances in cardiac arrest management over the last five decades on in-hospital cardiac arrest survival rates is not clear. Data on 212 arrests between January 2010 and May 2013 were retrospectively analyzed by means of an audit form based upon the Utstein template for in-hospital cardiac arrest, with a view to identifying significant associations between arrest characteristics and return of spontaneous circulation or survival to discharge. Significant associations were identified between return of spontaneous circulation and location (ward, 36 patients (38%) vs. ICU, 33 Patients (56%); P = 0.032), whether an arrest was witnessed or not (82 patients (52%) vs. 9 patients (30%); P = 0.029), whether the initial rhythm was shockable or non-shockable (28 patients (85%) vs. 38 patients (31%); P < 0.001), whether the first dose of adrenaline was administered within 2 minutes of arrest onset or later (13 patients (54%) vs. 12 patients (28%); P = 0.04).