ESPN 51th Annual Meeting

ESPN 2018


 
EURECA - a European Registry of Familial CAKUT Cases
KORBINIAN M. RIEDHAMMER 1 GIOVANNI MONTINI 2 JULIA HOEFELE 1 STEFANIE WEBER 3

1- INSTITUTE OF HUMAN GENETICS, KLINIKUM RECHTS DER ISAR, TECHNICAL UNIVERSITY OF MUNICH, MUNICH, GERMANY
2- PEDIATRIC NEPHROLOGY AND DIALYSIS UNIT, DEPARTMENT OF CLINICAL SCIENCES AND COMMUNITY HEALTH, UNIVERSITY OF MILAN, FONDAZIONE IRCCS Cà GRANDA-OSPEDALE MAGGIORE POLICLINICO, MILAN, ITALY
3- DEPARTMENT OF PEDIATRIC NEPHROLOGY, UNIVERSITY CHILDRENS HOSPITAL MARBURG, PHILIPPS-UNIVERSITY MARBURG, MARBURG, GERMANY
 
Introduction:

Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) account for approx. 40 % of cases of end stage renal failure until the age of 30 and therefore pose a major disease and economic burden. CAKUT comprises a vast spectrum of both clinically and genetically complex disorders. More than 40 genes have been implicated in monogenic CAKUT forms (isolated and syndromic), yet explaining only up to about 20 % of cases. There is strong evidence that more monogenic CAKUT forms exist, judging from the observation of familial occurrence and monogenic mouse models. 

Material and methods:

The CAKUT working group of the ESPN has the aim to set up a standardized registry for familial CAKUT. This registry will feature both genetic and clinical data, with the possibility of an ongoing follow-up of the course of the disease.

Results:

The online platform of the registry (http://www.eureca-registry.eu/registry/v10/#/) has already been designed and will be presented at the 2018 ESPN meeting. Furthermore, awareness for the registry should be raised among pediatric nephrologists and other clinicians to begin the enrollment of patients. Perspectively, genetic work-up of familial CAKUT cases, especially by methods of exome and genome sequencing, will help to further elucidate the molecular pathogenesis of CAKUT in general. Ultimately, this may facilitate the development of novel therapies.

Conclusions:

CAKUT includes a large number of heterogeneous disorders. Given the high prevalence of CAKUT among pediatric and young adult nephrologic patients but limited genetic diagnostic yield it is mandatory to join forces to improve the treatment and understanding of this complex disease. This is especially true for familial (and/or syndromic) cases, in which the diagnostic yield is higher than in isolated cases.