Beaumont Hospital Kidney Centre

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Inherited Kidney Disease Clinic

Inherited Kidney Disease Clinic, Beaumont Hospital, Dublin  

Beaumont Hospital runs a national referral programme for the evaluation of inherited kidney disease. The programme includes an inherited kidney disease clinic on an alternate week basis, which is registered with the Orphanet Registry of Rare Disease Services . Referrals are accepted from nephrologists nationwide and have been received from neprologists in Cork, Galway, Tallaght, Limerick, Mater, St Vincent’s, Waterford, Donegal and Sligo to date. Over sixty patients have been evaluated since establishment of the service in September 2016. 

At this clinic, the clinical phenotype, pedigree and imaging of referred cases are reviewed. Pathology, if available, is reviewed separately at a multidisciplinary meeting with Renal Pathologist and additional adult and paediatric Nephrologists present.

                      Kidney gene

Under the governance of the RKD Biobank and Registry, facilities are available for biobanking of DNA of affected individuals and appropriate affected or unaffected family members. Prof Conlon and his team provide clinical advice to patients based on available clinical information and discuss participation in research-based gene sequencing projects. Where appropriate, referral for diagnostic molecular testing and/or clinical genetics review is also made. Recruitment and DNA biobanking is also extended out to key affected and unaffected family members who were not present at clinic, facilitated by our research nurse.

The clinical applications resulting from this genetics clinic are manifold – it has led to establishment of a precise renal diagnosis for some families, enabled screening of appropriate family members and facilitated prognostication for certain individuals. It has also helped determine whether several potential kidney donors were suitable to proceed as donors. These cases arose in the setting of known familial kidney disease (eg polysytic kidney disease, Alport Syndrome) where the potential donor had not yet manifest clinically but was at risk of carrying the causative gene.