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[Management of genetic renal disorders: local experience and importance of the network].

Olivier BonnyAlexandre KettererSofia HermidaAndrea Superti-FurgaJean-Pierre VenetzHassib ChehadeHeidi FodstadViviane CinaPaloma ParvexAriane Paoloni-GiacobinoSophie De SeigneuxFadi Fakhouri
Published in: Revue medicale suisse (2023)
In nephrology, rare disorders are frequently encountered. In children, about 60% of the renal disorders are rare, with congenital abnormalities of the kidney and urinary tract disorders (CAKUT), being highly prevalent. In adults, about 22% of the disorders leading to renal replacement therapies are rare and include glomerulonephritis and genetic disorders. Rarity may preclude the rapid and extensive access to care for patients suffering of renal disorders, especially in Switzerland, which is small and fragmented. Only collaborative network and access to databases, shared resources and to specific competence may help patient management. Lausanne and Geneva University Hospitals have started specialized outpatient clinics for rare renal disorders several years ago and are part of national and international networks.
Keyphrases
  • palliative care
  • end stage renal disease
  • primary care
  • case report
  • chronic kidney disease
  • genome wide
  • peritoneal dialysis
  • urinary tract
  • copy number
  • sensitive detection
  • deep learning