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Kidney Week

Abstract: SA-PO577

Precision in CAKUT: The Italian Study Group on the Genetics of Congenital Anomalies of the Kidney and Urinary Tract

Session Information

Category: Genetic Diseases of the Kidney

  • 802 Non-Cystic Mendelian Diseases

Authors

  • Bodria, Monica, G. Gaslini Children Hospital, Genoa, Genoa, Italy
  • Pisani, Isabella, University of Parma, Parma, Parma, Italy
  • La scola, Claudio, Nephrology and Dialysis Unit, Department of Pediatrics, Azienda Ospedaliero Universitaria Sant''Orsola-Malpighi, Bologna, Bologna, Bologna, Italy
  • Meneghesso, Davide, University Hospital of Padua, Italy, Padua, Padua, Italy
  • Taroni, Francesca, UOC Nefrologia Dialisi e Trapianto Pediatrico, Fondazione IRCCS Ca Granda Policlinico, Milano, Milano, Italy
  • Luongo, Ilaria, Santobono Hospital, Naples, Naples, Italy
  • Guarino, Stefano, Azienda Ospedaliero-Universitaria "Luigi Vanvitelli", Napoli, Napoli, Italy
  • Brugnara, Milena, Universitary Pediatric Clinic, Verona, Verona, Italy
  • Giordano, Mario, Pediatric Hospital Giovanni XXIII, Bari, Bari, Italy
  • Goj, Vinicio, Fatebenefratelli Hospital , Milan, Milan, Italy
  • Esposito, Pasquale, Fondazione IRCCS Policlinico "San Matteo", Pavia, Italy
  • Zamboli, Pasquale, Second University of Naples, Naples, Italy
  • Peruzzi, Licia, Regina Margherita Children's Hospital; Citta della Salute e della Scienza, Turin, Italy
  • Masnata, Giuseppe, Azienda Ospedale G. Brotzu, Cagliari, Cagliari, Italy
  • Conti, Giovanni, G. Martino Hospital, Messina, Italy
  • Santoro, Domenico, Policlinico G Martino, Messina, Messina, Italy
  • Gesualdo, Loreto, University of Bari, Altamura, Bari, Italy
  • Gharavi, Ali G., Columbia University, New York, New York, United States
  • Scolari, Francesco, University of Brescia, Montichiari (Brescia), Brescia, Italy
  • Sanna-Cherchi, Simone, Columbia University, New York, New York, United States
  • Ghiggeri, Gian Marco, G. Gaslini Children Hospital, Genoa, Genoa, Italy

Group or Team Name

  • Precision In CAKUT Italian Study Group
Background

Congenital anomalies of the kidneys and urinary tract (CAKUT) are a leading cause of end stage renal disease. Pathogenetic mechanisms behind CAKUT are mostly unknown. Point mutations and copy number variations (CNVs) account for 10-30% of the cases. Genetic tests are often not performed, thus limiting prognosis and management.

Methods

We present a multi-institutional Italian study group on CAKUT, composed of adult and pediatric nephrology and urology investigators. The group aims at recruiting and charactering CAKUT patients to a) conduct clinical characterization and prospective studies b) perform research DNA microarrays and whole exome sequencing (WES) c) perform clinically certified CLIA confirmation of results d) implement genetic results into clinical practice and e) devise novel precision medicine approaches.

Results

30 Italian centers have recruited and characterized 1,482 index cases. 658 of them have been subjected to DNA microarrays for GWAS and CNVs, and 393 have been subjected to WES. The most commonly identified CNVs were the deletion at the loci 17q12, 22q11.2, 1q21 and 16p11.2, while the most commonly point mutations were in PAX2, EYA1, HNF1B, SIX5, GATA3. Most of these genetic lesions predispose to extra-renal diseases and would benefit for early intervention strategies. The remaining samples are undergoing DNA microarrays/WES.

Conclusion

We plan to enroll 5,000 patients. The deep clinical and phenotypic characterization will allow precise anatomical classification of disease. Genetic data will be used to guide deep phenotyping. The longitudinal design will allow identification of genetic and non-genetic prognostic factors in order to improve renal and overall patient outcome.