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We performed a retrospective analysis of outcomes in the Irish National Kidney Transplant Service Registry for the years 2006–13. Associations of the KDRI/KDPI score with eGFR at various time points over the follow-up and ultimate graft failure were modelled.
Authors : Donal J. Sexton, Patrick O’Kelly, Claire Kennedy, Mark Denton, Declan G. de Freitas, Colm Magee, Conall M. O’Seaghdha and Peter J. Conlon.
Date: Clinical Kidney Journal, 2019, 1–5
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.
Authors: S. Cormican, D. M. Connaughton, C. Kennedy, S. Murray, M. Zivna, S. Kmoch, N. K. Fennelly,P. O’Kelly, K. A. Benson, E. T. Conlon, G. Cavalleri, C. Foley, B. Doyle, A. Dorman, M. A. Little,P. Lavin, K. Kidd, A. J. Bleyer and P. J. Conlon.
Date: RENAL FAILURE,2019, VOL. 41, NO. 1, 832–841
New-onset diabetes after transplant (NODAT) confers risk of diabetes-related complications as well as a threat to graft function and overall patient survival. The reported incidence of NODAT varies from 14 to 37%in renal transplant recipients worldwide; however, NODAT is yet to be studied in the Irish renal transplant population.
Authors: Maria Tomkins, Roxana M. Tudor, Kevin Cronin, Patrick O’Kelly, Yvonne Williams, Dilly Little,
Declan G. de Freitas, Mark Denton, Conall O’Seaghdha, Peter Conlon, Diarmuid Smith
Date: Irish Journal Of Medical Science, Sep 2019, https://doi.org/10.1007/s11845-019-02112-6
Our study is the first to demonstrate a significant reduction over the past two decades in the incidences of both SCC and BCC following solid organ transplantation. The SCC-to-BCC ratio was maintained, demonstrating that both are reducing equally. This trend coincided with temporal changes in immunosuppressive protocols and the introduction of skin cancer prevention programmes.
Authors:S. Menzies, E. O’Leary, G. Callaghan, M. Galligan,S. Deady, B. Gadallah, P. Lenane, A. Lally,
D.D. Houlihan, P.G. Morris, D.J. Sexton, P.A. McCormick, J.J. Egan, J.P. O’Neill, P.J. Conlon and
F.J. Moloney
Date: British Journal of Dermatology (2019) 181, pp983–991
An accurate genetic diagnosis can result in changes in clinical diagnosis, understanding of pathological mechanism, and treatment. NGS should be considered as a complementary diagnostic technique to kidney biopsy in the evaluation of patients with kidney disease
Authors: Susan L. Murray, Anthony Dorman, Katherine A. Benson, Dervla M. Connaughton, Caragh P.Stapleton, Neil K. Fennelly, Claire Kennedy, Ciara A. McDonnell, Kendrah Kidd, Sarah M. Cormican
Louise A. Ryan, Peter Lavin, Mark A. Little, Anthony J. Bleyer, Brendan Doyle, Gianpiero L. Cavalleri, Friedhelm Hildebrandt, Peter J. Conlon
Date: American Journal of Nephrology (2019) , DOI: 10.1159/000504869
Immunoglobulin A nephropathy (IgAN) is a heterogeneous disorder with a strong genetic component. The advent of whole exome sequencing (WES) has accelerated the discovery of genetic risk factors underlying familial disorders. We set out to test whether damaging
variants in known kidney disease genes explain a proportion of IgAN cases recruited in Ireland.
Authors: Caragh P. Stapleton, Claire Kennedy, Neil K. Fennelly, Susan L. Murray, Dervla M. Connaughton, Anthony M. Dorman, Brendan Doyle, Gianpiero L. Cavalleri, Peter J. Conlon
Date: Experimental Nephrology and Genetics: Research Article (2019) , DOI: 10.1159/000503564
In this multi-centre study of adults with CKD, a molecular genetic diagnosis was established in over one-third of families. In the evolving era of precision medicine, WES may be an important tool to identify the cause of CKD in adults.
Athors: Dervla M. Connaughton, Claire Kennedy, Shirlee Shril, Nina Mann, Susan L. Murray, Patrick A. Williams, Eoin Conlon, Makiko Nakayama, Amelie T. van der Ven, Hadas Ityel, Franziska Kause, Caroline M. Kolvenbach, Rufeng Dai, Asaf Vivante, Daniela A. Braun, Ronen Schneider, Thomas M. Kitzler, Brona Moloney, Conor P. Moran, John S. Smyth, Alan Kennedy, Katherine Benson, Caragh Stapleton, Mark Denton, Colm Magee, Conall M. O’Seaghdha, William D. Plant, Matthew D. Griffin, Atif Awan, Clodagh Sweeney, Shrikant M. Mane, Richard P. Lifton, Brenda Griffin, Sean Leavey, Liam Casserly, Declan G. de Freitas, John Holian, Anthony Dorman, Brendan Doyle, Peter J. Lavin, Mark A. Little, Peter J. Conlon, and Friedhelm Hildebrandt
Date: Kidney Int. 2019 April ; 95(4): 914–928. doi:10.1016/j.kint.2018.10.031
This is the first study to examine PRS, composed of variants that impact kidney function in the general population, in a post-transplant context. Despite PRS being a significant predictor of eGFR post-transplant, the effect size of common genetic factors is limited compared to clinical variables.
Authors: Caragh P. Stapleton, Andreas Heinzel, Weihua Guan, Peter J. van der Most, Jessica van Setten, Graham M. Lord, Brendan J. Keating, Ajay K. Israni, Martin H. de Borst, Stephan J.L. Bakker, Harold Snieder, Michael E. Weale, Florence Delaney, Maria P. Hernandez‐Fuentes, Roman Reindl-Schwaighofer, Rainer Oberbauer, Pamala A. Jacobson, Patrick B. Mark, Fiona A. Chapman, Paul J. Phelan, Claire Kennedy, Donal Sexton, Susan Murray, Alan Jardine, Jamie P. Traynor, Amy Jayne McKnight, Alexander P. Maxwell, Laura J. Smyth, William S. Oetting, Arthur J. Matas, Roslyn B. Mannon, David P. Schladt, David N. Iklé, The UK Ireland Renal Transplant Consortium*, DeKAF Genomics and GEN03 Studies, The International Genetics and Translational Research in Transplantation Network, Gianpiero L. Cavalleri, Peter J. Conlon.
Date: Am J Transplant. 2019 August ; 19(8): 2262–2273. doi:10.1111/ajt.15326.
Sleep disorders are prevalent in patients with end-stage renal disease (ESRD). In those patients on nocturnal dialysis, it is important to perform objective sleep assessment during regular dialysis. We present the case of a man on continuous cycler peritoneal dialysis with disabling fatigue and moderate restless legs syndrome (RLS). Actigraphy demonstrated excessive nocturnal movement. Unattended home polysomnography, performed during his regular peritoneal dialysis, confirmed frequent nocturnal periodic limb movements with disturbed sleep. Treatment with low dose pramipexole led to improved RLS and marked improvement in his energy. Clinicians caring for patients with ESRD should have a low threshold for objective sleep assessment given that sleep disorders are common, disabling and eminently amenable to treatment.
Authors: Claire Kennedy, Thomas Kane, Richard Costello, Peter Conlon
Date: J Clin Sleep Med. 2019;15(11): 1711–1713.